Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
Author:
Affiliation:
1. University Hospital Antwerp; Edegem Belgium
2. University of Antwerp; Edegem Belgium
Publisher
Wiley
Subject
General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.800/fullpdf
Reference22 articles.
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2. Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships;Sund;Genet. Med.,2013
3. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria;Capo-Chichi;J. Med. Genet.,2015
4. Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy;Xin;Am. J. Med. Genet. A,2007
5. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis fo 3-M Syndrome;Marshall;BMC Genom.,2015
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