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Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis

✍ Scribed by A. Ballabio, G. Parenti, R. Carrozzo, G. Sebastio, G. Andria, V. Buckle, N. Fraser, I. Craig, M. Rocchi, G. Romeo, A. C. Jobsis and M. G. Persico


Book ID
123634652
Publisher
National Academy of Sciences
Year
1987
Tongue
English
Weight
887 KB
Volume
84
Category
Article
ISSN
0027-8424

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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