Expanding the phenotype of
| Autor: | Petya, Bogdanova-Mihaylova, Patricia, McNamara, Sarah, Burton-Jones, Sinéad M, Murphy |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | BMJ case reports. 14(10) |
| ISSN: | 1757-790X |
| Popis: | Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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