Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS

Objective: To describe the clinical presentation and novel mutation in the coxsackie and adenovirus receptor-like membrane protein (CLMP) gene in a Chinese family with congenital short bowel syndrome (CSBS). Methods: We collected clinical data from a Chinese family with inherited CSBS, and performed...

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Detalles Bibliográficos
Autores principales: Ou, Fen-fen, Li, Ming-jie, Mei, Li-bin, Lin, Xin-Zhu, Wu, Yan-an
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802778/
https://www.ncbi.nlm.nih.gov/pubmed/35111702
http://dx.doi.org/10.3389/fped.2021.778859

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802778/
https://www.ncbi.nlm.nih.gov/pubmed/35111702
http://dx.doi.org/10.3389/fped.2021.778859

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