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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| 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 |