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

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

doi:10.1136/jmg.40.1.65

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

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Serval ID

serval:BIB_2B32349A8D48

Type

Article: article from journal or magazin.

Publication sub-type

Case report (case report): feedback on an observation with a short commentary.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

Journal of Medical Genetics

Author(s)

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

ISSN

1468-6244

Publication state

Published

Issued date

01/2003

Peer-reviewed

Oui

Volume

40

Number

1

Pages

65-71

Notes

Letter Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan

Keywords

Adolescent Adult Amino Acid Substitution/genetics Anion Transport Proteins Arginine/*genetics Biological Transport/genetics Carrier Proteins/*genetics/metabolism Child Chromosome Mapping/*methods Female Genes, Recessive/*genetics *Homozygote Humans Male Membrane Transport Proteins Middle Aged Mutation/*genetics Osteochondrodysplasias/*genetics Phenotype Sulfates/metabolism Tryptophan/*genetics

OAI-PMH

oai:serval.unil.ch:BIB_2B32349A8D48

DOI

10.1136/jmg.40.1.65

Pubmed

12525546

Web of science

000180670500012

Open Access

Yes

Create date

21/01/2008 12:50