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Article

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

European journal of medical genetics - 1 Sept 2014

Brady P D, Moerman Philippe, De Catte Luc, Deprest J, Devriendt K, Vermeesch J R

Abstract excerpt

Using exome sequencing we identify a homozygous splice site mutation in the PIGN gene in a foetus with multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, and oligodactyly. This finding expands the phenotypic spectrum associated with homozygous loss of function mutations in PIGN, and adds further support for...

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Source

Identifiers

PMID: 24852103
DOI: 10.1016/j.ejmg.2014.05.001

Genes

PIGN
GPI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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