## 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
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
โ Scribed by K.M. Panzer; R. Lachman; P. Modaff; R.M. Pauli
- Book ID
- 101449186
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 105 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
1. Figure 2 reports a deletion 933 del T. This should be corrected to 933-934 del CT (compare with Table 1, where mutation is reported correctly). 1 and Figure 2 report a mutation 430C>A (Q135R). This should be corrected to 430C>A (Q135K), as lysine, not arginine, is the codon resulting from the mut
Mutations in the DTDST gene can result in a family of skeletal dysplasia conditions which comprise two lethal disorders, achondrogenesis type 1B (ACG1B) and atelosteogenesis type 2 (AO2); and two non-lethal disorders, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia (rMED). Th