Disease: Popliteal pterygium syndrome lethal type
- A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
- Bartsocas-Papas Syndrome: A Case Report and Review of the Literature
- Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome
- Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions
- Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome
- Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders
- Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes
- Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function