Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes. HSAN-VI, perhaps the most notable type, is an autosomal...

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Bibliografiske detaljer

Principais autores:	Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2020-05-01
Serier:	Frontiers in Genetics
Fag:	HSAN-VI DST scoliosis dystonin whole-exome sequencing
Online adgang:	https://www.frontiersin.org/article/10.3389/fgene.2020.00492/full
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