Article
The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.
The Journal of dermatology - 1 May 2021
Liu Teng, Yuan Yefeng, Bai Dayong, Yao Xingfeng, Zhang Tianjiao, Huang Qiaorong, Qi Zhan, Yang Lin, Yang Xiumin, Li Wei, Wei Aihua
Abstract excerpt
Hermansky-Pudlak syndrome 9 (HPS-9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS-9 patients so far. Here, we reported the first HPS-9 patient in a Chinese population. He had brownish-yellow hair, white skin, brown irises with visual acuity, photophobia and nystagmus. Two novel variants, c.148G>T (p.Glu50*) and c.351dupT (p.Ile118Tyrfs*10) in BLOC1S6 gene...
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