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Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

✍ Scribed by L. Tiepolo; Orsetta Zuffardi; M. Fraccaro; D. Natale; L. Gargantini; C. R. Müller; H. H. Ropers

Publisher: Springer
Year: 1980
Tongue: English
Weight: 421 KB
Volume: 54
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278973

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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