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

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 synd...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Antona, Vincenzo, Cannata, Chiara, Giuffrè, Mario, Piro, Ettore, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336156/
https://www.ncbi.nlm.nih.gov/pubmed/35906671
http://dx.doi.org/10.1186/s13052-022-01329-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336156/
https://www.ncbi.nlm.nih.gov/pubmed/35906671
http://dx.doi.org/10.1186/s13052-022-01329-z

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