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Author Mary L Marazita

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The Influence of Sex and Ancestry on Three-Dimensional Palate Shape.

Ahmed M El Sergani, Stephanie Brandebura, Carmencita Padilla, Azeez Butali, Wasiu L Adeyemo, Consuelo Valencia-Ramírez, Claudia P Restrepo Muñeton, Lina M Moreno, Carmen J Buxó, Katherine Neiswanger, John R Shaffer, Mary L Marazita, Seth M Weinberg,

<h4>Abstract</h4>Modern human palate shape has been reported to vary by sex and ancestry, but limitations in the methods used to quantify shape and in population coverage have led to inconsistent findings. In the present study, the authors aim to characterize the effects of sex and ancestry on normal-range three-dimensional palate ... Read more >>

J Craniofac Surg (The Journal of craniofacial surgery)
[2021, 32(8):2883-2887]

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Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.

Cynthia C Morton, Mary L Marazita, Beate Peter, Mabel L Rice, Shelly Jo Kraft, Julie Barkmeier-Kraemer, Carey Balaban, Michael Phillips, Jennifer Schoden, Deborah Maiese, Tabitha Hendershot, Carol M Hamilton,

The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross-study analyses for biomedical research. An expert review panel (ERP) reviewed and updated the PhenX Toolkit Speech and Hearing domain to improve the precision and consistency of speech, language, and hearing disorder phenotypes. A three-member ERP ... Read more >>

Ann Hum Genet (Annals of human genetics)
[2021, :]

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Associations Between Salivary Bacteriome Diversity and Salivary Human Herpesvirus Detection in Early Childhood: A Prospective Cohort Study.

Freida Blostein, Sydney Foote, Elizabeth Salzman, Daniel W McNeil, Mary L Marazita, Emily T Martin, Betsy Foxman,

<h4>Background</h4>The bacteriome is associated with susceptibility to some eukaryotic viruses, but no study has examined associations between the salivary bacteriome and human herpesviruses (HHVs). We provide new prevalence and incidence estimates for salivary herpesviruses detection and estimate associations with bacteriome diversity in young children.<h4>Methods</h4>Salivary samples collected at ages ~2, 8, ... Read more >>

J Pediatric Infect Dis Soc (Journal of the Pediatric Infectious Diseases Society)
[2021, 10(8):856-863]

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Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

Chenxing Liu, Myoung Keun Lee, Sahin Naqvi, Hanne Hoskens, Dongjing Liu, Julie D White, Karlijne Indencleef, Harold Matthews, Ryan J Eller, Jiarui Li, Jaaved Mohammed, Tomek Swigut, Stephen Richmond, Mange Manyama, Benedikt Hallgrímsson, Richard A Spritz, Eleanor Feingold, Mary L Marazita, Joanna Wysocka, Susan Walsh, Mark D Shriver, Peter Claes, Seth M Weinberg, John R Shaffer,

Facial morphology is highly variable, both within and among human populations, and a sizable portion of this variation is attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects of normal-range facial variation. Most of these loci have been detected in Europeans, with ... Read more >>

PLoS Genet (PLoS genetics)
[2021, 17(8):e1009695]

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Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).

Lord J J Gowans, Carissa L Comnick, Peter A Mossey, Mekonen A Eshete, Wasiu L Adeyemo, Thirona Naicker, Waheed A Awotoye, Aline Petrin, Chinyere Adeleke, Peter Donkor, Tamara D Busch, Olutayo James, Mobolanle O Ogunlewe, Mary Li, Joy Olotu, Mohaned Hassan, Oluwole A Adeniyan, Solomon Obiri-Yeboah, Fareed K N Arthur, Pius Agbenorku, Alexander A Oti, Olubukola Olatosi, Olawale O Adamson, Azeez A Fashina, Erliang Zeng, Mary L Marazita, Adebowale A Adeyemo, Jeffrey C Murray, Azeez Butali,

<h4>Objective</h4>Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene-environment interactions, stochastic factors, gene-gene interactions, and parent-of-origin effects (POEs) play cardinal roles. POEs arise when the parental origin of alleles differentially impacts the phenotype of the offspring. The aim of this study was to identify POEs ... Read more >>

Cleft Palate Craniofac J (The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association)
[2021, :10556656211036316]

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PRICKLE1 × FOCAD Interaction Revealed by Genome-Wide vQTL Analysis of Human Facial Traits.

Dongjing Liu, Hyo-Jeong Ban, Ahmed M El Sergani, Myoung Keun Lee, Jacqueline T Hecht, George L Wehby, Lina M Moreno, Eleanor Feingold, Mary L Marazita, Seongwon Cha, Heather L Szabo-Rogers, Seth M Weinberg, John R Shaffer,

The human face is a highly complex and variable structure resulting from the intricate coordination of numerous genetic and non-genetic factors. Hundreds of genomic loci impacting quantitative facial features have been identified. While these associations have been shown to influence morphology by altering the mean size and shape of facial ... Read more >>

Front Genet (Frontiers in genetics)
[2021, 12:674642]

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Facial Anthropometry Measurements Using Three-Dimensional Stereophotogrammetry Analysis Among Nigerians.

Adegbayi Adeola Adekunle, Abiodun Yusuff Olowo, Olutayo James, Olawale Olatubosun Adamson, Azeez A Alade, Failat Olushola Agbogidi, Afisu O Oladega, Mobolanle Olugbemiga Ogunlewe, Wasiu Lanre Adeyemo, Tamara D Busch, Peter A Mossey, Mary L Marazita, Azeez Butali,

<h4>Abstract</h4>This study aimed to determine the normative facial anthropometry measurement among Nigerians using three-dimensional stereophotogrammetry analysis.This study was carried out in Lagos, Nigeria over a period of 3 years. The sample population was Nigerians of diverse ethnic groups, age 16 and above with no history of congenital or acquired craniofacial ... Read more >>

J Craniofac Surg (The Journal of craniofacial surgery)
[2021, :]

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Predictors of use of dental care by children in north-central Appalachia in the USA.

Cecelia I Nelson, Casey D Wright, Jamey T Brumbaugh, Katherine Neiswanger, Richard J Crout, Christa L Lilly, Mary L Marazita, Daniel W McNeil,

Use of dental services in childhood, especially preventive care, is associated with many important oral health outcomes throughout life. The Andersen behavioral model of healthcare utilization posits that predisposing characteristics, enabling resources, and need factors predict utilization in oral and other healthcare domains. Inequities that produce lower utilization of dental ... Read more >>

PLoS One (PloS one)
[2021, 16(7):e0250488]

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Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.

Debashree Ray, Sowmya Venkataraghavan, Wanying Zhang, Elizabeth J Leslie, Jacqueline B Hetmanski, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita, Ingo Ruczinski, Margaret A Taub, Terri H Beaty,

Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts- the most common craniofacial birth defects in humans- are commonly categorized into cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which are traditionally considered to be etiologically distinct. However, some evidence of shared genetic risk in ... Read more >>

PLoS Genet (PLoS genetics)
[2021, 17(7):e1009584]

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Genome-Wide Association Study (GWAS) of dental caries in diverse populations.

Rasha N Alotaibi, Brian J Howe, Jonathan M Chernus, Nandita Mukhopadhyay, Carla Sanchez, Frederic W B Deleyiannis, Katherine Neiswanger, Carmencita Padilla, Fernando A Poletta, Ieda M Orioli, Carmen J Buxó, Jacqueline T Hecht, George L Wehby, Ross E Long, Alexandre R Vieira, Seth M Weinberg, John R Shaffer, Lina M Moreno Uribe, Mary L Marazita,

<h4>Background</h4>Dental caries is one of the most common chronic diseases and is influenced by a complex interplay of genetic and environmental factors. Most previous genetic studies of caries have focused on identifying genes that contribute to dental caries in specific ethnic groups, usually of European descent.<h4>Methods</h4>The aim of this study ... Read more >>

BMC Oral Health (BMC oral health)
[2021, 21(1):377]

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FAT4 identified as a potential modifier of orofacial cleft laterality.

Sarah W Curtis, Daniel Chang, Miranda R Sun, Michael P Epstein, Jeffrey C Murray, Eleanor Feingold, Terri H Beaty, Seth M Weinberg, Mary L Marazita, Robert J Lipinski, Jenna C Carlson, Elizabeth J Leslie,

Orofacial clefts (OFCs) are common (1 in 700 births) congenital malformations that include a cleft lip (CL) and cleft lip and palate (CLP). These OFC subtypes are also heterogeneous themselves, with the CL occurring on the left, right, or both sides of the upper lip. Unilateral CL and CLP have ... Read more >>

Genet Epidemiol (Genetic epidemiology)
[2021, 45(7):721-735]

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Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.

Mary Li, Joy Olotu, Carmen J Buxo-Martinez, Peter A Mossey, Deepti Anand, Tamara Busch, Azeez Alade, Lord J J Gowans, Mekonen Eshete, Wasiu L Adeyemo, Thirona Naicker, Waheed O Awotoye, Sagar Gupta, Chinyere Adeleke, Valeria Bravo, Siyong Huang, Olatunbosun O Adamson, Ada M Toraño, Carolina A Bello, Mairim Soto, Marilyn Soto, Ricardo Ledesma, Myrellis Marquez, Jose F Cordero, Lydia M Lopez-Del Valle, Maria I Salcedo, Natalio Debs, Aline Petrin, Hannah Malloy, Khalid Elhadi, Olutayo James, Mobolanle O Ogunlewe, Fekir Abate, Abiye Hailu, Ibrahim Mohammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Mohaned Hassan, John Pape, Solomon Obiri-Yeboah, Fareed K N Arthur, Alexander A Oti, Peter Donkor, Mary L Marazita, Salil A Lachke, Adebowale A Adeyemo, Jeffrey C Murray, Azeez Butali,

<h4>Objectives</h4>Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a ... Read more >>

Oral Dis (Oral diseases)
[2021, :]

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Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.

Wanying Zhang, Sowmya Venkataraghavan, Jacqueline B Hetmanski, Elizabeth J Leslie, Mary L Marazita, Eleanor Feingold, Seth M Weinberg, Ingo Ruczinski, Margaret A Taub, Alan F Scott, Debashree Ray, Terri H Beaty,

Two large studies of case-parent trios ascertained through a proband with a non-syndromic orofacial cleft (OFC, which includes cleft lip and palate, cleft lip alone, or cleft palate alone) were used to test for possible gene-environment (G × E) interaction between genome-wide markers (both observed and imputed) and self-reported maternal ... Read more >>

Front Cell Dev Biol (Frontiers in cell and developmental biology)
[2021, 9:621018]

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Using the PhenX Toolkit to Select Standard Measurement Protocols for Your Research Study.

Lisa Ann Cox, Stephen Hwang, Jonathan Haines, Erin M Ramos, Catherine A McCarty, Mary L Marazita, Michelle L Engle, Tabitha Hendershot, Huaqin Helen Pan, Carol M Hamilton,

The goals of PhenX (consensus measures for Phenotypes and eXposures) are to promote the use of standard measurement protocols and to help investigators identify opportunities for collaborative research and cross-study analysis, thus increasing the impact of individual studies. The PhenX Toolkit (https://www.phenxtoolkit.org/) offers high-quality, well-established measurement protocols to assess phenotypes ... Read more >>

Curr Protoc (Current protocols)
[2021, 1(5):e149]

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Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.

Nandita Mukhopadhyay, Eleanor Feingold, Lina Moreno-Uribe, George Wehby, Luz Consuelo Valencia-Ramirez, Claudia P Restrepo Muñeton, Carmencita Padilla, Frederic Deleyiannis, Kaare Christensen, Fernando A Poletta, Ieda M Orioli, Jacqueline T Hecht, Carmen J Buxó, Azeez Butali, Wasiu L Adeyemo, Alexandre R Vieira, John R Shaffer, Jeffrey C Murray, Seth M Weinberg, Elizabeth J Leslie, Mary L Marazita,

Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic and vary in prevalence by ethnicity. Africans have the lowest prevalence of OFCs (~ 1/2,500), Asians have the highest prevalence (~1/500), Europeans and Latin Americans ... Read more >>

Front Cell Dev Biol (Frontiers in cell and developmental biology)
[2021, 9:621482]

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The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.

Sarah W Curtis, Daniel Chang, Myoung Keun Lee, John R Shaffer, Karlijne Indencleef, Michael P Epstein, David J Cutler, Jeffrey C Murray, Eleanor Feingold, Terri H Beaty, Peter Claes, Seth M Weinberg, Mary L Marazita, Jenna C Carlson, Elizabeth J Leslie,

Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft - cleft lip (CL) and cleft lip and palate (CLP) - as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral ... Read more >>

HGG Adv (HGG advances)
[2021, 2(2):]

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The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.

Karlijne Indencleef, Hanne Hoskens, Myoung Keun Lee, Julie D White, Chenxing Liu, Ryan J Eller, Sahin Naqvi, George L Wehby, Lina M Moreno Uribe, Jacqueline T Hecht, Ross E Long, Kaare Christensen, Frederic W Deleyiannis, Susan Walsh, Mark D Shriver, Stephen Richmond, Joanna Wysocka, Hilde Peeters, John R Shaffer, Mary L Marazita, Greet Hens, Seth M Weinberg, Peter Claes,

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 ... Read more >>

Front Genet (Frontiers in genetics)
[2021, 12:626403]

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Fluctuating Asymmetry and Sexual Dimorphism in Human Facial Morphology: A Multi-Variate Study.

Omid Ekrami, Peter Claes, Ellen Van Assche, Mark D Shriver, Seth M Weinberg, Mary L Marazita, Susan Walsh, Stefan Van Dongen,

<h4>Background</h4>Fluctuating asymmetry is often used as an indicator of developmental instability, and is proposed as a signal of genetic quality. The display of prominent masculine phenotypic features, which are a direct result of high androgen levels, is also believed to be a sign of genetic quality, as these hormones may ... Read more >>

Symmetry (Basel) (Symmetry)
[2021, 13(2):]

Cited: 1 time

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Impact of low-frequency coding variants on human facial shape.

Dongjing Liu, Nora Alhazmi, Harold Matthews, Myoung Keun Lee, Jiarui Li, Jacqueline T Hecht, George L Wehby, Lina M Moreno, Carrie L Heike, Jasmien Roosenboom, Eleanor Feingold, Mary L Marazita, Peter Claes, Eric C Liao, Seth M Weinberg, John R Shaffer,

The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional images, we partitioned the full face into 31 ... Read more >>

Sci Rep (Scientific reports)
[2021, 11(1):748]

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Oral health and related risk indicators in north-central Appalachia differ by rurality.

Yuqiao Zhou, Richard Cuddy, Daniel W McNeil, Casey D Wright, Richard J Crout, Eleanor Feingold, Katherine Neiswanger, Mary L Marazita, John R Shaffer,

<h4>Objectives</h4>This cross-sectional study assessed differences in oral health and related behaviours and risk indicators by rurality in a north-central Appalachian population using the Andersen behavioural model as a conceptual framework.<h4>Methods</h4>Participants were residents aged 18-59 years (n = 1311) from the Center for Oral Health Research in Appalachia, selected according to a household-based sampling ... Read more >>

Community Dent Oral Epidemiol (Community dentistry and oral epidemiology)
[2021, 49(5):427-436]

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Insights into the genetic architecture of the human face.

Julie D White, Karlijne Indencleef, Sahin Naqvi, Ryan J Eller, Hanne Hoskens, Jasmien Roosenboom, Myoung Keun Lee, Jiarui Li, Jaaved Mohammed, Stephen Richmond, Ellen E Quillen, Heather L Norton, Eleanor Feingold, Tomek Swigut, Mary L Marazita, Hilde Peeters, Greet Hens, John R Shaffer, Joanna Wysocka, Susan Walsh, Seth M Weinberg, Mark D Shriver, Peter Claes,

The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are ... Read more >>

Nat Genet (Nature genetics)
[2021, 53(1):45-53]

Cited: 6 times

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Effects of Male Facial Masculinity on Perceived Attractiveness.

Omid Ekrami, Peter Claes, Mark D Shriver, Seth M Weinberg, Mary L Marazita, Susan Walsh, Stefan Van Dongen,

Studies suggest that high levels of masculinity in men can be a signal of 'better genes' as well as low parental investment. It is the trade-off between these two qualities that has led to the hypothesis that women's preferences for male masculinity are condition-dependent, yet, not all studies support this ... Read more >>

Adapt Human Behav Physiol (Adaptive human behavior and physiology)
[2021, 7(1):73-88]

Cited: 1 time

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Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits.

Bryan C Quach, Michael J Bray, Nathan C Gaddis, Mengzhen Liu, Teemu Palviainen, Camelia C Minica, Stephanie Zellers, Richard Sherva, Fazil Aliev, Michael Nothnagel, Kendra A Young, Jesse A Marks, Hannah Young, Megan U Carnes, Yuelong Guo, Alex Waldrop, Nancy Y A Sey, Maria T Landi, Daniel W McNeil, Dmitriy Drichel, Lindsay A Farrer, Christina A Markunas, Jacqueline M Vink, Jouke-Jan Hottenga, William G Iacono, Henry R Kranzler, Nancy L Saccone, Michael C Neale, Pamela Madden, Marcella Rietschel, Mary L Marazita, Matthew McGue, Hyejung Won, Georg Winterer, Richard Grucza, Danielle M Dick, Joel Gelernter, Neil E Caporaso, Timothy B Baker, Dorret I Boomsma, Jaakko Kaprio, John E Hokanson, Scott Vrieze, Laura J Bierut, Eric O Johnson, Dana B Hancock,

Cigarette smoking is the leading cause of preventable morbidity and mortality. Genetic variation contributes to initiation, regular smoking, nicotine dependence, and cessation. We present a Fagerström Test for Nicotine Dependence (FTND)-based genome-wide association study in 58,000 European or African ancestry smokers. We observe five genome-wide significant loci, including previously unreported ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):5562]

Cited: 9 times

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Prevalence of Torus Palatinus and association with dental arch shape in a multi-ethnic cohort.

Ahmed M El Sergani, Joel Anderton, Stephanie Brandebura, Monica Obniski, Monica T Ginart, Carmencita Padilla, Azeez Butali, Wasiu L Adeyemo, Ross E Long, Lina M Moreno, Mary L Marazita, Seth M Weinberg,

<i>Objectives:</i> Torus Palatinus (TP) is a bony projection located on the oral surface of the hard palate. The trait is typically benign, has an unknown etiology, and varies widely in phenotypic expression. Prior studies suggest differences in TP prevalence by sex and ancestry, but the reported rates vary, even within ... Read more >>

Homo (Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen)
[2020, 71(4):273-280]

Cited: 1 time

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Parents of Children With Nonsyndromic Orofacial Clefting Show Altered Palate Shape.

Ahmed M El Sergani, Stephanie Brandebura, Carmencita Padilla, Azeez Butali, Wasiu L Adeyemo, Consuelo Valencia-Ramírez, Claudia P Restrepo Muñeton, Lina M Moreno, Carmen J Buxó, Ross E Long, Katherine Neiswanger, John R Shaffer, Mary L Marazita, Seth M Weinberg,

<h4>Objective</h4>The unaffected relatives of individuals with nonsyndromic orofacial clefts have been shown to exhibit subtle craniofacial differences compared with the general population. Here, we investigate whether these morphological differences extend to the shape of the palate.<h4>Design</h4>We conducted a geometric morphometric analysis to compare palate shape in the clinically unaffected parents ... Read more >>

Cleft Palate Craniofac J (The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association)
[2021, 58(7):847-853]

Cited: 1 time

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