Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. Issue 4 (1st March 2017)
- Record Type:
- Journal Article
- Title:
- Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. Issue 4 (1st March 2017)
- Main Title:
- Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
- Authors:
- Muys, Joke
Blaumeiser, Bettina
Jacquemyn, Yves
Janssens, Katrien - Abstract:
- Key Clinical Message: In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families. Abstract : In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.
- Is Part Of:
- Clinical case reports. Volume 5:Issue 4(2017)
- Journal:
- Clinical case reports
- Issue:
- Volume 5:Issue 4(2017)
- Issue Display:
- Volume 5, Issue 4 (2017)
- Year:
- 2017
- Volume:
- 5
- Issue:
- 4
- Issue Sort Value:
- 2017-0005-0004-0000
- Page Start:
- 440
- Page End:
- 445
- Publication Date:
- 2017-03-01
- Subjects:
- CHST3 -- homozygosity mapping -- prenatal -- single nucleotide polymorphism array -- skeletal dysplasia -- spondyloephiphyseal dysplasia
Medicine -- Periodicals
616.09 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904 ↗ - DOI:
- 10.1002/ccr3.800 ↗
- Languages:
- English
- ISSNs:
- 2050-0904
- 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:
- 2348.xml