Article
Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Minerva pediatrics - 1 Feb 2023
Ji Taoyun, Li Dongxiao, Wu Ye, Xiao Jiangxi, Ji Haoran, Wu Xiru, Wang Jingmin, Jiang Yuwu
Abstract excerpt
BACKGROUND: Clinical and genetic features were analyzed in five pedigrees with Pelizaeus-Merzbacher-like disease (PMLD) to provide bases for genetic counseling and prenatal diagnosis. CONCLUSIONS: Six patients from five pedigrees were diagnosed with PMLD based on their clinical data. Six GJC2 novel mutations were found in this study, expanding the spectrum of GJC2 mutations. This is the second group of GJC2...
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