Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

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Title:	Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Author(s):	Ballhausen, D.; Bonafe, L.; Terhal, P.; Unger, S.L.; Bellus, G.; Classen, M.; Hamel, B.C.J. ; Spranger, J.; Zabel, B.; Cohn, D.H.; Cole, W.G.; Hecht, J.T.; Superti-Furga, A.
Publication year:	2003
Source:	Journal of Medical Genetics, vol. 40, iss. 1, (2003), pp. 65-71
ISSN:	0022-2593
DOI:	https://doi.org/10.1136/jmg.40.1.65
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/166907
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Subject:	UMCN 5.1: Genetic defects of metabolism
Organization:	Human Genetics
Journal title:	Journal of Medical Genetics
Volume:	vol. 40
Issue:	iss. 1
Page start:	p. 65
Page end:	p. 71