Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1627-1629

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2016

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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 inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS.