Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC)

Abstract Background Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum...

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Auteurs principaux:	Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2025-01-01
Collection:	Italian Journal of Pediatrics
Sujets:	Receptor-Interacting Protein Kinase 4 Arthrogryposis multiplex congenital Whole-exome sequencing Sanger sequencing
Accès en ligne:	https://doi.org/10.1186/s13052-025-01858-3
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