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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Bibliographische Detailangaben
Hauptverfasser: Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 1999
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762965/
https://ncbi.nlm.nih.gov/pubmed/10465113
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