Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities

OBJECTIVE: To identify the underlying molecular basis of a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties in 4 sisters from a consanguineous family. METHODS: Whole-exome analysis of DNA of the 2 older patients followed by Sanger sequencing of...

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Detalles Bibliográficos
Autores principales: Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830197/
https://www.ncbi.nlm.nih.gov/pubmed/27123486
http://dx.doi.org/10.1212/NXG.0000000000000064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830197/
https://www.ncbi.nlm.nih.gov/pubmed/27123486
http://dx.doi.org/10.1212/NXG.0000000000000064

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