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Status of the human malformation map: 2007
Author(s) -
Carey John C.,
Viskochil David H.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32103
Subject(s) - geography
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. © 2007 Wiley‐Liss, Inc.