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LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum
OBJECTIVE: Clinical, neuroimaging, and genetic characterization of 3 patients with LINS1-associated developmental regression, intellectual disability, dysmorphism, and further neurologic deficits. METHODS: Three affected brothers from a consanguineous family from Afghanistan, their 2 healthy sibling...
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| Vydáno v: | Neurol Genet |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7413627/ https://ncbi.nlm.nih.gov/pubmed/32802957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000500 |
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