First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

Biallelic mutations in the ovarian tumor domain-containing 6B (OTUD6B) gene, coding for a deubiquitinating enzyme, were recently described to cause an intellectual disability syndrome characterized by seizures and dysmorphic features in six families worldwide. We here report on a 6-year-old Italian...

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Detalles Bibliográficos
Autores principales: Straniero, Letizia, Rimoldi, Valeria, Soldà, Giulia, Bellini, Melissa, Biasucci, Giacomo, Asselta, Rosanna, Duga, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192414/
https://www.ncbi.nlm.nih.gov/pubmed/30364145
http://dx.doi.org/10.3389/fgene.2018.00464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192414/
https://www.ncbi.nlm.nih.gov/pubmed/30364145
http://dx.doi.org/10.3389/fgene.2018.00464

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