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Article

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

Italian journal of pediatrics - 29 Jul 2022

Serra Gregorio, Antona Vincenzo, Cannata Chiara, Giuffrè Mario, Piro Ettore, Schierz Ingrid Anne Mandy, Corsello Giovanni

Abstract excerpt

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into...

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Identifiers

PMID: 35906671
DOI: 10.1186/s13052-022-01329-z
PMCID: PMC9336156

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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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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.PMID 35906671Read ↗

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