## Abstract Mutations in diastrophic dysplasia sulfate transporter (__DTDST__) cause a spectrum of autosomal recessive chondrodysplasias. In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG‐1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DT
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
✍ Scribed by Antonio Rossi; Hans J. van der Harten; Frits A. Beemer; Wim J. Kleijer; Richard Gitzelmann; Beat Steinmann; A. Superti-Furga
- Book ID
- 106136498
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 158 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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## Abstract Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the __DTDST__ gene, which result in a continuous clinical spectrum of recessively inherited chondrod
We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang dysplasia, atelosteogenesis type I (AO I) and type III (AO III), and the lethal male phenotype of Melnick-Needles syndrome. One patient exhibited strikingly broad, bowed