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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2016
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| Materias: | |
| 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 |