Article
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis.
Pediatric neurology - 1 Mar 2023
Lu Yanyu, Xing Haiying, Liu Chang, Huang Diandian, Sun Chengyue, Yu Meng, Meng Lingchao, Lv He, Zhang Wei, Wang Zhaoxia, Yuan Yun, Xie Zhiying
Abstract excerpt
BACKGROUND: Biallelic pathogenic phosphoserine aminotransferase 1 (PSAT1) variants generally cause a severe phenotype predominantly involving the central nervous system. Here, for the first time, we report two patients harboring pathogenic PSAT1 variants only manifested as polyneuropathy and ichthyosis. METHODS: Two patients from unrelated families presenting with polyneuropathy and ichthyosis were enrolled....
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