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Lethal multiple pterygium syndrome.

PMID: 27843868 (view PubMed database entry)
DOI: 10.4103/2249-4863.192361 (read at publisher's website )
PMCID: PMC5084588 (free full text version available)

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Tulika Joshi, Nazia Nagori Noor, Moolraj Kural, Amita Tripathi,

The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome.

J Family Med Prim Care (Journal of family medicine and primary care)
[2016, 5(2):477-478]

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