Full Text Journal Articles by
Author Edgar A Otto

Advertisement

Find full text journal articles






Hypertension induces glomerulosclerosis in phospholipase C-ε1 deficiency.

Douglas K Atchison, Christopher L O'Connor, Rajasree Menon, Edgar A Otto, Santhi K Ganesh, Roger C Wiggins, Alan V Smrcka, Markus Bitzer,

Loss-of-function mutations in phospholipase C-ε1 (PLCE1) have been detected in patients with nephrotic syndrome, but other family members with the same mutation were asymptomatic, suggesting additional stressor are required to cause the full phenotype. Consistent with these observations, we determined that global Plce1-deficient mice have histologically normal glomeruli and no ... Read more >>

Am. J. Physiol. Renal Physiol. (American journal of physiology. Renal physiology)
[2020, 318(5):F1177-F1187]

Cited: 0 times

View full text PDF listing >>



Single cell transcriptomics identifies focal segmental glomerulosclerosis remission endothelial biomarker.

Rajasree Menon, Edgar A Otto, Paul Hoover, Sean Eddy, Laura Mariani, Bradley Godfrey, Celine C Berthier, Felix Eichinger, Lalita Subramanian, Jennifer Harder, Wenjun Ju, Viji Nair, Maria Larkina, Abhijit S Naik, Jinghui Luo, Sanjay Jain, Rachel Sealfon, Olga Troyanskaya, Nir Hacohen, Jeffrey B Hodgin, Matthias Kretzler, Kidney Precision Medicine Project Kpmp, ,

To define cellular mechanisms underlying kidney function and failure, the KPMP analyzes biopsy tissue in a multicenter research network to build cell-level process maps of the kidney. This study aimed to establish a single cell RNA sequencing strategy to use cell-level transcriptional profiles from kidney biopsies in KPMP to define ... Read more >>

JCI Insight (JCI insight)
[2020, 5(6):]

Cited: 0 times

View full text PDF listing >>



Advertisement

Organoid single cell profiling identifies a transcriptional signature of glomerular disease.

Jennifer L Harder, Rajasree Menon, Edgar A Otto, Jian Zhou, Sean Eddy, Noel L Wys, Christopher O'Connor, Jinghui Luo, Viji Nair, Cristina Cebrian, Jason R Spence, Markus Bitzer, Olga G Troyanskaya, Jeffrey B Hodgin, Roger C Wiggins, Benjamin S Freedman, Matthias Kretzler, , ,

Podocyte injury is central to many forms of kidney disease, but transcriptional signatures reflecting podocyte injury and compensation mechanisms are challenging to analyze in vivo. Human kidney organoids derived from pluripotent stem cells (PSCs), a potentially new model for disease and regeneration, present an opportunity to explore the transcriptional plasticity ... Read more >>

JCI Insight (JCI insight)
[2019, 4(1):]

Cited: 8 times

View full text PDF listing >>



Single-cell analysis of progenitor cell dynamics and lineage specification in the human fetal kidney.

Rajasree Menon, Edgar A Otto, Austin Kokoruda, Jian Zhou, Zidong Zhang, Euisik Yoon, Yu-Chih Chen, Olga Troyanskaya, Jason R Spence, Matthias Kretzler, Cristina Cebrián,

The mammalian kidney develops through reciprocal interactions between the ureteric bud and the metanephric mesenchyme to give rise to the entire collecting system and the nephrons. Most of our knowledge of the developmental regulators driving this process arises from the study of gene expression and functional genetics in mice and ... Read more >>

Development (Development (Cambridge, England))
[2018, 145(16):]

Cited: 18 times

View full text PDF listing >>



Is ciliary Hedgehog signalling dispensable in the kidneys?

Edgar A Otto,

Nat Rev Nephrol (Nature reviews. Nephrology)
[2018, 14(7):415-416]

Cited: 1 time

View full text PDF listing >>



High-Throughput Screening Enhances Kidney Organoid Differentiation from Human Pluripotent Stem Cells and Enables Automated Multidimensional Phenotyping.

Stefan M Czerniecki, Nelly M Cruz, Jennifer L Harder, Rajasree Menon, James Annis, Edgar A Otto, Ramila E Gulieva, Laura V Islas, Yong Kyun Kim, Linh M Tran, Timothy J Martins, Jeffrey W Pippin, Hongxia Fu, Matthias Kretzler, Stuart J Shankland, Jonathan Himmelfarb, Randall T Moon, Neal Paragas, Benjamin S Freedman,

Organoids derived from human pluripotent stem cells are a potentially powerful tool for high-throughput screening (HTS), but the complexity of organoid cultures poses a significant challenge for miniaturization and automation. Here, we present a fully automated, HTS-compatible platform for enhanced differentiation and phenotyping of human kidney organoids. The entire 21-day ... Read more >>

Cell Stem Cell (Cell stem cell)
[2018, 22(6):929-940.e4]

Cited: 37 times

View full text PDF listing >>



Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar A Otto, ,

A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. Up to now, the underlying genetic basis of RHYNS ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2018, 26(9):1266-1271]

Cited: 1 time

View full text PDF listing >>



Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi,

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(6):1034]

Cited: 2 times

View full text PDF listing >>



Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi,

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(5):789-802]

Cited: 8 times

View full text PDF listing >>



Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Brendan D Crawford, Christopher E Gillies, Catherine C Robertson, Matthias Kretzler, Edgar A Otto, Virginia Vega-Warner, Matthew G Sampson,

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2017, 32(7):1285]

Cited: 0 times

View full text PDF listing >>



A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.

Joseph Wang, Beth Vogt, Sidharth Kumar Sethi, Matthew G Sampson, Virginia Vega-Warner, Edgar A Otto, Rupesh Raina,

Kidney Int Rep (Kidney International Reports)
[2017, 2(6):1238-1242]

Cited: 0 times

View full text PDF listing >>



Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann,

Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in ... Read more >>

Nat. Genet. (Nature genetics)
[2017, 49(7):1025-1034]

Cited: 26 times

View full text PDF listing >>



Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi,

BACKGROUND:The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. METHODS:We conducted a genomewide search for structural variants in two cohorts: ... Read more >>

N. Engl. J. Med. (The New England journal of medicine)
[2017, 376(8):742-754]

Cited: 36 times

View full text PDF listing >>



Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Brendan D Crawford, Christopher E Gillies, Catherine C Robertson, Matthias Kretzler, Edgar A Otto, Virginia Vega-Warner, Matthew G Sampson,

BACKGROUND:More than 30 genes can harbor rare exonic variants sufficient to cause nephrotic syndrome (NS), and the number of genes implicated in monogenic NS continues to grow. However, outside the first year of life, the majority of affected patients, particularly in ancestrally mixed populations, do not have a known monogenic ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2017, 32(3):467-476]

Cited: 5 times

View full text PDF listing >>



A Familial Infantile Renal Failure.

Sidharth K Sethi, Nikita Wadhwani, Pranaw Jha, Rajan Duggal, Virginia Vega-Warner, Rupesh Raina, Shyam B Bansal, Vijay Kher, Matthew G Sampson, Edgar A Otto,

Kidney Int Rep (Kidney International Reports)
[2017, 2(2):130-133]

Cited: 0 times

View full text PDF listing >>



tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.

Christopher E Gillies, Edgar A Otto, Virginia Vega-Warner, Catherine C Robertson, Simone Sanna-Cherchi, Ali Gharavi, Brendan Crawford, Rajendra Bhimma, Cheryl Winkler, , , Hyun Min Kang, Matthew G Sampson,

Targeted sequencing of discrete gene sets is a cost effective strategy to screen subjects for monogenic forms of disease. One method to achieve this pairs microfluidic PCR with next generation sequencing. The PCR step of this pipeline creates challenges in accurate variant calling. This includes that most reads targeting a ... Read more >>

BMC Bioinformatics (BMC bioinformatics)
[2016, 17(1):233]

Cited: 1 time

View full text PDF listing >>



Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Daniela A Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D Porath, Jennifer A Lawson, Rannar Airik, Shirlee Shril, Susan J Allen, Deborah Stein, Adila Al Kindy, Bodo B Beck, Nurcan Cengiz, Khemchand N Moorani, Fatih Ozaltin, Seema Hashmi, John A Sayer, Detlef Bockenhauer, Neveen A Soliman, Edgar A Otto, Richard P Lifton, Friedhelm Hildebrandt,

Chronically increased echogenicity on renal ultrasound is a sensitive early finding of chronic kidney disease that can be detected before manifestation of other symptoms. Increased echogenicity, however, is not specific for a certain etiology of chronic kidney disease. Here, we performed whole exome sequencing in 79 consanguineous or familial cases ... Read more >>

Kidney Int. (Kidney international)
[2016, 89(2):468-475]

Cited: 27 times

View full text PDF listing >>



FAT1 mutations cause a glomerulotubular nephropathy.

Heon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, Jonathan D Porath, Toma A Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A Chan, Luc G T Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V Milford, Moin A Saleem, Wee Teik Keng, Stephen I Alexander, Rudolph P Valentini, Christoph Licht, Jun C Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A Soliman, Edgar A Otto, Richard P Lifton, Lawrence B Holzman, Nicholas E S Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt,

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration ... Read more >>

Nat Commun (Nature communications)
[2016, 7:10822]

Cited: 32 times

View full text PDF listing >>



MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan Doherty,

BACKGROUND:Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel-Gruber syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2016, 53(1):62-72]

Cited: 13 times

View full text PDF listing >>



Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

Markus Schueler, Jan Halbritter, Ian G Phelps, Daniela A Braun, Edgar A Otto, Jonathan D Porath, Heon Yung Gee, Jay Shendure, Brian J O'Roak, Jennifer A Lawson, Marwa M Nabhan, Neveen A Soliman, Dan Doherty, Friedhelm Hildebrandt,

The term nephronophthisis-related ciliopathies (NPHP-RC) describes a group of rare autosomal-recessive cystic kidney diseases, characterised by broad genetic and clinical heterogeneity. NPHP-RC is frequently associated with extrarenal manifestations and accounts for the majority of genetically caused chronic kidney disease (CKD) during childhood and adolescence. Generation of a molecular diagnosis has ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2016, 53(3):208-214]

Cited: 14 times

View full text PDF listing >>



Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Matthew G Sampson, Christopher E Gillies, Catherine C Robertson, Brendan Crawford, Virginia Vega-Warner, Edgar A Otto, Matthias Kretzler, Hyun Min Kang,

To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS) to diagnose monogenic causes, reliably distinguishing NS-causing variants from the background of rare, noncausal variants prevalent in all genomes is vital. To determine the prevalence of monogenic NS in a North American case cohort while accounting for ... Read more >>

J. Am. Soc. Nephrol. (Journal of the American Society of Nephrology : JASN)
[2016, 27(7):1970-1983]

Cited: 19 times

View full text PDF listing >>



Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.

Sara L Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G Sampson, Vijay Kher, Sidharth K Sethi, Edgar A Otto,

Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular diagnostics for four patients with ... Read more >>

PLoS ONE (PloS one)
[2015, 10(6):e0130729]

Cited: 4 times

View full text PDF listing >>



Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

Matthew G Sampson, Catherine C Robertson, Sebastian Martini, Laura H Mariani, Kevin V Lemley, Christopher E Gillies, Edgar A Otto, Jeffrey B Kopp, Anne Randolph, Virginia Vega-Warner, Felix Eichinger, Viji Nair, Debbie S Gipson, Daniel C Cattran, Duncan B Johnstone, John F O'Toole, Serena M Bagnasco, Peter X Song, Laura Barisoni, Jonathan P Troost, Matthias Kretzler, John R Sedor, ,

APOL1 variants have been associated with renal phenotypes in blacks. To refine clinical outcomes and discover mechanisms of APOL1-associated kidney injury, we analyzed clinical and genomic datasets derived from 90 black subjects in the Nephrotic Syndrome Study Network (NEPTUNE), stratified by APOL1 risk genotype. Ninety subjects with proteinuria ≥0.5 g/d ... Read more >>

J. Am. Soc. Nephrol. (Journal of the American Society of Nephrology : JASN)
[2016, 27(3):814-823]

Cited: 46 times

View full text PDF listing >>



IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Isabelle Perrault, Jan Halbritter, Jonathan D Porath, Xavier Gérard, Daniela A Braun, Heon Yung Gee, Hanan M Fathy, Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Michael Taschner, Markus Schueler, Esben Lorentzen, Richard P Lifton, Jennifer A Lawson, Meriem Garfa-Traore, Edgar A Otto, Philippe Bastin, Catherine Caillaud, Josseline Kaplan, Jean-Michel Rozet, Friedhelm Hildebrandt,

BACKGROUND:Bidirectional intraflagellar transport (IFT) consists of two major protein complexes, IFT-A and IFT-B. In contrast to the IFT-B complex, all components of IFT-A have recently been linked to human ciliopathies when defective. We therefore hypothesised that mutations in additional IFT-B encoding genes can be found in patients with multisystemic ciliopathies. ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2015, 52(10):657-665]

Cited: 12 times

View full text PDF listing >>



Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Emma Montgomery, John A Sayer, Laura A Baines, Ann Marie Hynes, Virginia Vega-Warner, Sally Johnson, Judith A Goodship, Edgar A Otto,

Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations in cubilin (CUBN) and in amnionless (AMN) have been shown to cause IGS. To date, there are only about 300 cases ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2015, 16:35]

Cited: 3 times

View full text PDF listing >>



Advertisement

Disclaimer
1.2874 s