๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Steroid sulfatase deficiency and x-linked ichthyosis

โœ Scribed by Larry J. Shapiro

Book ID
108313886
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
113 KB
Volume
12
Category
Article
ISSN
0009-9120

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Deletion of the distal short arm of the
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
โœ Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F. ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 397 KB ๐Ÿ‘ 2 views

## 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