Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for <i>DTDST</i> mutation R279W

Diana Ballhausen(University of Zurich), Luisa Bonafé(University of Zurich), Pauline Terhal(Utrecht University), Sheila Unger(University of California, Los Angeles), Gary A. Bellus(University of Colorado Denver), Martin Claßen(Klinikum Links der Weser), Bruno Hamel(Radboud University Nijmegen), J Spranger(Greenwood Genetic Center), B. Zabel(Johannes Gutenberg University Mainz), Daniel H. Cohn(University of California, Los Angeles), William G. Cole(University of Toronto), Jacqueline T. Hecht(Dean College), Andrea Superti‐Furga(University of Zurich)
Journal of Medical Genetics
January 1, 2003
10.1136/jmg.40.1.65
Cited by 76Open Access
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