Article
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Molecular medicine reports - 1 Jul 2018
Zheng Ruizhi, Zhao Yaguang, Wu Jiayu, Wang Yuanmei, Liu Jian-Ling, Zhou Zhi-Ling, Zhou Xiao-Tao, Chen Dan-Na, Liao Wei-Hua, Li Jia-Da
Abstract excerpt
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient...
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