Wednesday, 2 December 2009

x-linked ichthyosis (ABSTRACT)

background-x-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32.
Deletions of this region can be associated with cognitive behavioural difficulties inclding autism.
Animal work suggests the STS gene may be involved in attentional processes.
We have therefore undertaken a systematic study of autism and attention deficit hyperactivity disorder (ADHD) in boys with XLI.

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