Status of the human malformation map: 2007.
Paralleling the advances in the identification of disease-causing genes in most human disease categories, the progress in mapping and gene identification of human congenital malformations and syndromes is considerable. In this review we display the loci currently known for malformations and tabulate the cloned genes as of summer 2007. Currently 73% of the conditions cataloged in the 6th edition of Smith's Recognizable Patterns of Human Malformation [Jones KL, 2006] have had their respective gene or locus identified. This recent progress makes an updating of the human malformation map timely and informative.
Carey
John C
JC
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA. john.carey@hsc.utah.edu
Viskochil
David H
DH
D000818:Animals; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000235:genetics*; D003001:Cloning, Molecular; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D013577:Syndrome