Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
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DOI: 10.1111/cge.13775
Abstract: UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X‐linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been… read more here.
Keywords: mutational spectrum; ube2a deficiency; clinical mutational; refinement clinical ... See more keywords