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Article

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

American journal of medical genetics. Part A - 1 Feb 2018

Ahmed Atif A, Skaria Priya, Safina Nicole P, Thiffault Isabelle, Kats Alex, Taboada Eugenio, Habeebu Sultan, Saunders Carol

Abstract excerpt

Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in...

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Source

Identifiers

PMID: 29274205
DOI: 10.1002/ajmg.a.38577

Genes

ACTA1
BICD2
NEB

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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