Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003)

Record Type:: Journal Article
Title:: Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003)
Main Title:: Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Authors:: Ballhausen, D
Bonafé, 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
Abstract:
Is Part Of:: Journal of medical genetics. Volume 40:Issue 1(2003)
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 1(2003)
Issue Display:: Volume 40, Issue 1 (2003)
Year:: 2003
Volume:: 40
Issue:: 1
Issue Sort Value:: 2003-0040-0001-0000
Page Start:: 65
Page End:: 71
Publication Date:: 2003-01-01
Subjects:: multiple epiphyseal dysplasia -- DTDST -- club foot -- sulphate transporter
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.40.1.65 ↗
Languages:: English
ISSNs:: 1468-6244
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:: 23193.xml