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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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2019-05-01
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| coleção: | BMC Medical Genetics |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s12881-019-0828-5 |
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