Associated Papers
Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).
Lu YL et al.
Italian Journal of Pediatrics, 2025
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Fortugno P et al.
Human Molecular Genetics, 2022
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
Dinçer T et al.
American Journal of Medical Genetics. Part A, 2021
Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.
Huang CS et al.
Structure (london, England : 1993), 2018
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Busa T et al.
American Journal of Medical Genetics. Part A, 2017
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch B et al.
American Journal of Medical Genetics. Part A, 2015
Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.
Zhang L et al.
American Journal of Human Genetics, 2015
25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
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