Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients,...

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Bibliografiska uppgifter
Huvudupphovsmän: Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Group 1999
Ämnen:
Short Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762965/
https://ncbi.nlm.nih.gov/pubmed/10465113
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