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Article

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

American journal of medical genetics. Part A - 1 Jul 2014

Drury Suzanne, Boustred Christopher, Tekman Mehmet, Stanescu Horia, Kleta Robert, Lench Nicholas, Chitty Lyn S, Scott Richard H

Abstract excerpt

We report on a family with five fetuses conceived to first cousin parents presenting with abnormal ultrasound findings including contractures and microcephaly. Cerebellar hypoplasia and ventriculomegaly were also present in two and fetal edema developed in the one fetus that survived beyond 24 weeks of gestation. Linkage studies of 15 members of the family, including four affecteds, were undertaken followed by...

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Source

Identifiers

PMID: 24700531
DOI: 10.1002/ajmg.a.36506

Genes

ERCC5

Variants

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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