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Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature

✍ Scribed by Dagmar Kalousek; Alicia Schiffrin; Anna-Marie Berguer; Phyllis Spier; Harvey Guyda; Eleanor Colle


Book ID
119457377
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
982 KB
Volume
94
Category
Article
ISSN
1097-6833

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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