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Article

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2013

van der Werf Christine S, Sribudiani Yunia, Verheij Joke B G M, Carroll Matthew, O'Loughlin Edward, Chen Chien-Huan, Brooks Alice S, Liszewski M Kathryn, Atkinson John P, Hofstra Robert M W

Abstract excerpt

PURPOSE: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these patients. METHODS: We performed mutation analysis of the second exon of FLNA in the two surviving affected males of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23037936
DOI: 10.1038/gim.2012.123

Genes

FLNA
CLMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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