Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. Issue 5 (30th April 2004)

Record Type:: Journal Article
Title:: Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. Issue 5 (30th April 2004)
Main Title:: Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD
Authors:: Borochowitz, Z U
Scheffer, D
Adir, V
Dagoneau, N
Munnich, A
Cormier-Daire, V
Abstract:
Is Part Of:: Journal of medical genetics. Volume 41:Issue 5(2004)
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 5(2004)
Issue Display:: Volume 41, Issue 5 (2004)
Year:: 2004
Volume:: 41
Issue:: 5
Issue Sort Value:: 2004-0041-0005-0000
Page Start:: 366
Page End:: 372
Publication Date:: 2004-04-30
Subjects:: autosomal recessive -- bone dysplasia -- matrilin 3 -- short stature -- spondylo-epi-metaphyseal dysplasia
ACFD, acrocapital femoral dysplasia -- BDA1, brachydactyly type A1 -- LAPTM4A, lysosomal-associated protein transmembrane 4 -- MATN3, matrilin 3 -- MED, multiple epiphyseal dysplasia -- OA, osteoarthritis -- SEMD, spondylo-epi-metaphyseal dysplasia
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.2003.013342 ↗
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:: 17943.xml