Associated Papers
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Sorokina EA et al.
Human Genetics, 2021
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E et al.
Clinical Genetics, 2020
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