Associated Papers
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
Kato K et al.
Science Translational Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Gangfuß A et al.
The Journal of Pathology, 2022
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M et al.
American Journal of Medical Genetics. Part A, 2020
WASP family proteins: Molecular mechanisms and implications in human disease.
Kramer DA et al.
European Journal of Cell Biology, 0
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