Article
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
European journal of human genetics : EJHG - 1 Nov 2016
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
Abstract excerpt
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 small number of patients have been reported to date with variants in this gene. In this report, we describe novel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.