First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1675339
Abstract: Congenital short bowel syndrome (CSBS) is a rare congenital neonatal disorder. CSBS results from intestinal impairment during embryogenesis. Mutated CXADR-like membrane protein ( CLMP ) and Filamin A genes are involved in the cause of… read more here.
Keywords: mutation clmp; short bowel; congenital short; bowel syndrome ... See more keywords
Congenital Short-Bowel Syndrome in an Adult Dog
Sign Up to like & getrecommendations! Published in 2018 at "Veterinary Pathology"
DOI: 10.1177/0300985817750455
Abstract: A 3.5-year-old, neutered male pit bull dog was euthanized following an approximately 1-year history of intractable diarrhea and weight loss of undetermined cause. At necropsy, the dog was emaciated. The ratio of total intestinal length… read more here.
Keywords: congenital short; short bowel; bowel syndrome; syndrome adult ... See more keywords
Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.778859
Abstract: 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… read more here.
Keywords: csbs; congenital short; mutation; short bowel ... See more keywords
The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS)
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24065719
Abstract: The immunoglobulin-like cell adhesion molecule CLMP is a member of the CAR family of cell adhesion proteins and is implicated in human congenital short-bowel syndrome (CSBS). CSBS is a rare but very severe disease for… read more here.
Keywords: cell adhesion; congenital short; clmp; csbs ... See more keywords