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

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 journal › Letter › Academic › peer-review

55 Citations (Scopus)

Original language	English
Pages (from-to)	65-71
Number of pages	7
Journal	Journal of Medical Genetics
Volume	40
Issue number	1
Publication status	Published - 1 Jan 2003

Cite this

@article{d70d830889ab4dd087ed9067310e722e,

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

author = "D. Ballhausen and L. Bonaf{\'e} and P. Terhal and Unger, \{S. L.\} and G. Bellus and M. Classen and Hamel, \{B. C.\} and J. Spranger and B. Zabel and Cohn, \{D. H.\} and Cole, \{W. G.\} and Hecht, \{J. T.\} and A. Superti-Furga",

year = "2003",

month = jan,

day = "1",

language = "English",

volume = "40",

pages = "65--71",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "1",

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TY - JOUR

T1 - Recessive multiple epiphyseal dysplasia (rMED)

T2 - Phenotype delineation in eighteen homozygotes for DTDST mutation R279W [6]

AU - Ballhausen, D.

AU - Bonafé, L.

AU - Terhal, P.

AU - Unger, S. L.

AU - Bellus, G.

AU - Classen, M.

AU - Hamel, B. C.

AU - Spranger, J.

AU - Zabel, B.

AU - Cohn, D. H.

AU - Cole, W. G.

AU - Hecht, J. T.

AU - Superti-Furga, A.

PY - 2003/1/1

Y1 - 2003/1/1

UR - https://www.scopus.com/pages/publications/0037238318

M3 - Letter

C2 - 12525546

AN - SCOPUS:0037238318

SN - 0022-2593

VL - 40

SP - 65

EP - 71

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 1

ER -

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

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