The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

Abstract Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics. Methods We performed high-depth next-generation targeted sequencing using a custom-ordered “...

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Bibliographic Details
Main Authors: James Jiqi Wang, Bo Yu, Zongzhe Li
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Hereditary sensory and autonomic neuropathies
HSAN IIA
WNK1
Targeted sequencing
Genetic diagnosis
Online Access:http://link.springer.com/article/10.1186/s12881-019-0828-5

Internet

http://link.springer.com/article/10.1186/s12881-019-0828-5

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