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Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation

✍ Scribed by Hosomi, Naoko; Oiso, Naoki; Fukai, Kazuyoshi; Hanada, Kazushi; Fujita, Hiroko; Ishii, Masamitsu

Book ID: 119293220
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 526 KB
Volume: 45
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2006.10.001

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## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another