Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder

Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal recessive form of the disease. However, due to the rare nature of CSBS, only a sma...

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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Alves, Maria M, Halim, Danny, Maroofian, Reza, de Graaf, Bianca M, Rooman, Raoul, van der Werf, Christine S, Van de Vijver, Els, Mehrjardi, Mohammad YV, Aflatoonian, Majid, Chioza, Barry A, Baple, Emma L, Dehghani, Mohammadreza, Crosby, Andrew H, Hofstra, Robert MW
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Short Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5055811/
https://ncbi.nlm.nih.gov/pubmed/27352967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.58
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