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Article

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Journal of medical genetics - 1 Jan 2012

Vogt Julie, Morgan Neil V, Rehal Pauline, Faivre Laurence, Brueton Louise A, Becker Kristin, Fryns Jean-Pierre, Holder Sue, Islam Lily, Kivuva Emma, Lynch Sally Ann, Touraine Renaud, Wilson Louise C, MacDonald Fiona, Maher Eamonn R

Abstract excerpt

BACKGROUND: Germline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) or the lethal form (LMPS) of multiple pterygium syndrome (MPS). In addition CHRNG mutations and mutations in other components of the embryonal acetylcholine receptor may present with fetal akinesia deformation sequence (FADS) without pterygia....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22167768
DOI: 10.1136/jmedgenet-2011-100378

Genes

CHRNG

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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