Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands

Congenital short bowel syndrome (CSBS) is a rare condition characterized by an inborn shortening of bowel length with loss of intestinal functions, which often combines malrotation. CXADR-like membrane protein (CLMP) and filamin A (FLNA) gene mutations are the two major causes of this inherited defe...

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Detalles Bibliográficos
Autores principales: Chuang, Yao-Hung, Fan, Wen-Lang, Chu, Yu-De, Liang, Kung-Hao, Yeh, Yuan-Ming, Chen, Chien-Chang, Chiu, Cheng-Hsun, Lai, Ming-Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7770137/
https://www.ncbi.nlm.nih.gov/pubmed/33384711
http://dx.doi.org/10.3389/fgene.2020.574943

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7770137/
https://www.ncbi.nlm.nih.gov/pubmed/33384711
http://dx.doi.org/10.3389/fgene.2020.574943

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