X-linked ichthyosis
Definition:
References:
-
[1]. E S Alperin, et al. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem. 1997 Aug 15;272(33):20756-63. [Content Brief]
[2]. L Kent, et al. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet. 2008 Aug;45(8):519-24. [Content Brief]
[3]. M J Reed, et al. Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev. 2005 Apr;26(2):171-202. [Content Brief]