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Article

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.

BMC medical genomics - 12 Dec 2016

Wong John K L, Campbell Desmond, Ngo Ngoc Diem, Yeung Fanny, Cheng Guo, Tang Clara S M, Chung Patrick H Y, Tran Ngoc Son, So Man-Ting, Cherny Stacey S, Sham Pak C, Tam Paul K, Garcia-Barcelo Maria-Mercè

Abstract excerpt

BACKGROUND: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. METHODS: We aim to identify genetic risk factors by a "trio-based" exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were...

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Identifiers

PMID: 27955658
DOI: 10.1186/s12920-016-0236-z
PMCID: PMC5154011

Genes

CYLD
ACAN
PXDN
RTEL1
TLN1

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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