Article
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
European journal of medical genetics - 1 Jul 2017
Au P Y B, Huang L, Broley S, Gallagher L, Creede E, Lahey D, Ordorica S, Mina K, Boycott K M, Baynam G, Dyment D A
Abstract excerpt
The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to contain many ID-related genes and males show a marked predominance for intellectual disability. Here we report two females with syndromic intellectual disability. The first individual was relatively mild in her presentation with mild-moderate intellectual...
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