article_metadata: Yi-Lei Lu Meng-Wei Liu Jie-Yuan Jin Ding Pan
article_metadata: 10.1186/s13052-025-01858-3
article_metadata: Ital J Pediatr
article_metadata: 2025 Jan 21;51(1):6.
article_metadata: arthrogryposis multiplex congenital receptor-interacting protein kinase 4 sanger sequencing whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39833848/
article_metadata: Arthrogryposis / genetics
article_metadata: Arthrogryposis / genetics Case Reports Asian People / genetics China East Asian People Exome Sequencing Female Humans Pedigree Protein Serine-Threonine Kinases / genetics RIPK4 protein, human Protein Serine-Threonine Kinases
article_metadata: PMC11748807
article_metadata: 39833848
article_metadata: Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC)
article_metadata: 2025