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

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 “HSAN” p...

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Detalles Bibliográficos
Autores principales: Wang, James Jiqi, Yu, Bo, Li, Zongzhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537375/
https://www.ncbi.nlm.nih.gov/pubmed/31132985
http://dx.doi.org/10.1186/s12881-019-0828-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537375/
https://www.ncbi.nlm.nih.gov/pubmed/31132985
http://dx.doi.org/10.1186/s12881-019-0828-5

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