https://pmc.ncbi.nlm.nih.gov/articles/PMC6699142/
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental...
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in...
de novo
https://pubmed.ncbi.nlm.nih.gov/20301787/
CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital cataractsrelatedfacialneuropathy