Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeUSP9XIntellectual disabilityLines of BlaschkoThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to...
In addition, USP9X has been implicated in several pathological states including Turner syndrome29, X-linked intellectual disability22, seizures30, Parkinson's disease28 and various types of malignancies31–33. However, mechanistic insights into the role of USP9X in cancer development and progression ...
C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, Di Rocco M, Héron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. ...