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:
Case Report
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
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author Joshi, Tulika
Noor, Nazia Nagori
Kural, Moolraj
Tripathi, Amita
author_facet Joshi, Tulika
Noor, Nazia Nagori
Kural, Moolraj
Tripathi, Amita
author_sort Joshi, Tulika
collection PubMed
description 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.
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spelling pubmed-50845882016-11-14 Lethal multiple pterygium syndrome Joshi, Tulika Noor, Nazia Nagori Kural, Moolraj Tripathi, Amita J Family Med Prim Care Case Report 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. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC5084588/ /pubmed/27843868 http://dx.doi.org/10.4103/2249-4863.192361 Text en Copyright: © Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Joshi, Tulika
Noor, Nazia Nagori
Kural, Moolraj
Tripathi, Amita
Lethal multiple pterygium syndrome
title Lethal multiple pterygium syndrome
title_full Lethal multiple pterygium syndrome
title_fullStr Lethal multiple pterygium syndrome
title_full_unstemmed Lethal multiple pterygium syndrome
title_short Lethal multiple pterygium syndrome
title_sort lethal multiple pterygium syndrome
topic Case Report
url 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
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AT noornazianagori lethalmultiplepterygiumsyndrome
AT kuralmoolraj lethalmultiplepterygiumsyndrome
AT tripathiamita lethalmultiplepterygiumsyndrome

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