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Lethal multiple pterygium syndrome

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...

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Detalles Bibliográficos
Autores principales: Joshi, Tulika, Noor, Nazia Nagori, Kural, Moolraj, Tripathi, Amita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5084588/
https://www.ncbi.nlm.nih.gov/pubmed/27843868
http://dx.doi.org/10.4103/2249-4863.192361