Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W [6]

D. Ballhausen, L. Bonafé, P. Terhal, S. L. Unger, G. Bellus, M. Classen, B. C. Hamel, J. Spranger, B. Zabel, D. H. Cohn, W. G. Cole, J. T. Hecht, A. Superti-Furga*

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

55 Citations (Scopus)
Original languageEnglish
Pages (from-to)65-71
Number of pages7
JournalJournal of Medical Genetics
Volume40
Issue number1
Publication statusPublished - 1 Jan 2003

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