Article
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
American journal of medical genetics. Part A - 1 Dec 2020
El-Dessouky Sara H, Issa Mahmoud Y, Aboulghar Mona M, Gaafar Hassan M, Elarab Ahmed Ezz, Ateya Mohamed I, Omar Heba H, Beetz Christian, Zaki Maha Saad
Abstract excerpt
Kinase D-interacting substrate of 220 kDa (KIDINS220) is a transmembrane protein playing integral role in growth mediating pathways in the nervous and cardiovascular systems. KIDINS220 heterozygous truncating variants that affect the protein's C-terminus have been associated with a phenotype, so far described only in few unrelated children, including spastic paraplegia, intellectual disability, nystagmus, and...
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