CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Atypical cases are often known as PEHO-like, and there...

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Detalles Bibliográficos
Autores principales: Nahorski, Michael S., Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E., Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F., Takahashi, Masahide, Woods, C. Geoffrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806221/
https://www.ncbi.nlm.nih.gov/pubmed/26917597
http://dx.doi.org/10.1093/brain/aww014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806221/
https://www.ncbi.nlm.nih.gov/pubmed/26917597
http://dx.doi.org/10.1093/brain/aww014

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