## 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
โฆ LIBER โฆ
146 Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene
โ Scribed by W. Sperl; J. Koch; C. Rauscher; J. Zschocke; C. Fauth; J.A. Mayr
- Book ID
- 116752051
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 39 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1567-7249
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Deletion of the distal short arm of the
โ
Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F.
๐
Article
๐
1991
๐
John Wiley and Sons
๐
English
โ 397 KB
๐ 2 views
A family with pyruvate dehydrogenase com
โ
Mรกr Tulinius; Niklas Darin; Lars-Martin Wiklund; Eva Holmberg; Jan Erik Eriksson
๐
Article
๐
2004
๐
Springer
๐
English
โ 416 KB
Pitfalls in prenatal diagnosis of DMD du
โ
Sigrid Vondran; Jeanett Edelmann; Heidrun Holland; Claudia Wolf; Sibylle Strenge
๐
Article
๐
1999
๐
John Wiley and Sons
๐
English
โ 165 KB
๐ 2 views
Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes conf