## Abstract Xβlinked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (__ARSE__) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the __ARSE__ gene in a series of 16 male patients, and we f
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata
β Scribed by Michelle Nino; Claudia Matos-Miranda; Momoe Maeda; Li Chen; Judith Allanson; Christine Armour; Carol Greene; Majeeda Kamaluddeen; Debra Rita; Livija Medne; Elaine Zackai; Sahar Mansour; Andrea Superti-Furga; Amy Lewanda; Michael Bober; Kenneth Rosenbaum; Nancy Braverman
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 249 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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The term, "chondrodysplasia punctata" (CDP) denotes a pattern of abnormal punctate calcification of dystrophic epiphyseal cartilage and certain other cartilaginous structures, such as the larynx. CDP occurs in a variety of genetic disorders associated with skeletal dwarfism and can also be caused by
## 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