De novo mutations in autosomal recessive congenital malformations.
Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Holly A
HA
Black
Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
David
D
Parry
Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Santosh S
SS
Atanur
Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
David
D
Ross
Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Elaine
E
Rose
NHS Fife Fetal Medicine Unit, Victoria Hospital, Kirkcaldy, UK.
Helen
H
Russell
Tommy's Centre for Maternal and Fetal Health, MRC University of Edinburgh Centre for Reproductive Health, The Queen's Medical Research Institute, Edinburgh, UK.
Sarah
S
Stock
South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK.
Jon
J
Warner
South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK.
Mary
M
Porteous
Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Timothy J
TJ
Aitman
Department of Pathology, NHS Lothian, Edinburgh, UK.
Margaret J
MJ
Evans
D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D010375:Pedigree