Article
Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
Developmental medicine and child neurology - 1 Jan 2022
Jiao Xianru, Xue Yinan, Yang Sai, Gong Pan, Niu Yue, Wang Qi, Yang Hui, Xiong Hui, Zhang Yuehua, Yang Zhixian
Abstract excerpt
AIM: To further identify and broaden the phenotypic characteristics and genotype spectrum of the dehydrodolichol diphosphate synthase (DHDDS) gene. METHOD: Pathogenic variants of DHDDS were identified by whole-exome sequencing; clinical data of 10 patients (six males, four females; age range 2-14y; mean age 5y 9mo, SD 3y 3mo) were collected and analysed. RESULTS: All patients had seizures, and myoclonic seizures...
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