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Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3 and OCA2. Mutations in GABRB3 have been frequently associated with epilepsy and au...
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| Publicado en: | Cell Rep |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5240804/ https://ncbi.nlm.nih.gov/pubmed/28009282 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2016.11.067 |
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