## 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
Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature
โ Scribed by Uehara, Shigeki ;Hanew, Kunihiko ;Harada, Naoki ;Yamamori, Shunji ;Nata, Masayuki ;Niikawa, Norio ;Okamura, Kunihiro
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 301 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0148-7299
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