A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin ab...

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Detalles Bibliográficos
Autores principales: Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462939/
https://www.ncbi.nlm.nih.gov/pubmed/28611923
http://dx.doi.org/10.1038/hgv.2017.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462939/
https://www.ncbi.nlm.nih.gov/pubmed/28611923
http://dx.doi.org/10.1038/hgv.2017.19

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