2016-11-01
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder
Publication
Publication
European Journal of Human Genetics , Volume 24 - Issue 11 p. 1627- 1629
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.
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| doi.org/10.1038/ejhg.2016.58, hdl.handle.net/1765/96710 | |
| European Journal of Human Genetics | |
| Organisation | Department of Clinical Genetics |
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Alves, M., Halim, D., Maroofian, R. (Reza), De Graaf, B. M., Rooman, R., van der Werf, C., … Hofstra, R. (2016). 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, 24(11), 1627–1629. doi:10.1038/ejhg.2016.58 |
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