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Article

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

American journal of medical genetics. Part A - 1 Feb 2023

Oliwa Agata, Hendson Glenda, Longman Cheryl, Synnes Anne, Seath Kim, Barnicoat Angela, Hall Judith G, Patel Millan S

Abstract excerpt

Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly Marden Walker syndrome, which are usually distinguished by the...

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PMID: 36317804
DOI: 10.1002/ajmg.a.63019

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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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Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.PMID 36317804Read ↗

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