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...

Full description

Saved in:
Bibliographic Details
Main Authors: Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Italian Journal of Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s13052-025-01858-3
Tags: Add Tag
No Tags, Be the first to tag this record!