Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. Issue 12 (18th December 2003)

Record Type:: Journal Article
Title:: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. Issue 12 (18th December 2003)
Main Title:: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype
Authors:: Offiah, A C
Mansour, S
Jeffrey, I
Nash, R
Whittock, N
Pyper, R
Bewley, S
Clayton, P T
Hall, C M
Abstract:
Is Part Of:: Journal of medical genetics. Volume 40:Issue 12(2003)
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 12(2003)
Issue Display:: Volume 40, Issue 12 (2003)
Year:: 2003
Volume:: 40
Issue:: 12
Issue Sort Value:: 2003-0040-0012-0000
Page Start:: e129
Page End:: e129
Publication Date:: 2003-12-18
Subjects:: Greenberg dysplasia -- HEM -- chondrodysplasia punctata -- sterol pathway -- lamin B receptor
HEM, hydrops-ectopic calcification-motheaten -- GC-MS, gas chromatography-mass spectrometry -- PCR, polymerase chain reaction
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.40.12.e129 ↗
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:: 17927.xml