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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Detalles Bibliográficos
Autores principales: Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413627/
https://www.ncbi.nlm.nih.gov/pubmed/32802957
http://dx.doi.org/10.1212/NXG.0000000000000500

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413627/
https://www.ncbi.nlm.nih.gov/pubmed/32802957
http://dx.doi.org/10.1212/NXG.0000000000000500

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