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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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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5462939/ https://ncbi.nlm.nih.gov/pubmed/28611923 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.19 |
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