Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase

Jiao, XR; Xue, YA; Yang, S; Gong, P; Niu, Y; Wang, Q; Yang, H; Xiong, H; Zhang, YH; Yang, ZX

Yang, ZX (通讯作者)，Peking Univ First Hosp, Dept Pediat, 1 Xianmen St, Beijing 100034, Peoples R China.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2022; 64 (1): 125

Abstract

Aim To further identify and broaden the phenotypic characteristics and genotype spectrum of the dehydrodolichol diphosphate synthase (DHDDS) gene. Met......

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