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Article

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

American journal of human genetics - 1 Aug 2006

Morgan Neil V, Brueton Louise A, Cox Phillip, Greally Marie T, Tolmie John, Pasha Shanaz, Aligianis Irene A, van Bokhoven Hans, Marton Tamas, Al-Gazali Lihadh, Morton Jenny E V, Oley Christine, Johnson Colin A, Trembath Richard C, Brunner Han G, Maher Eamonn R

Abstract excerpt

Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis). In addition, a variety of developmental defects (e.g., vertebral anomalies) may occur. MPSs are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal and nonlethal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16826531
DOI: 10.1086/506256
PMCID: PMC1559492

Genes

CHRNG

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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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.PMID 16826531Read ↗

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