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LRP4 mutations alter Wnt/[beta]-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Authors :
Yun Li
Pawlik, Barbara
Elcioglu, Nursel
Aglan, Mona
Kayerili, Hulya
Yigit, Gokhan, Percin, Ferda
Goodman, Frances
Nurnberg, Gudrun
Cenani, Asim
Urquhart, Jill
Boi-Dinh Chung
Ismail, Samira
Amr, Khalda Aslander, Ayca D.
Becker, Christian
Netzer, Christian
Scambler, Peter
Eyaid, Wafaa
Hamamy, Hanan
Clayton-Smith, Jill
Hennekam, Raoul
Nurnberg, Peter
Herz, Jaochim
Temtamy, Samia A.
Wollnik, Bernd
Source :
American Journal of Human Genetics. May 14, 2010, Vol. 86 Issue 5, p696, 11 p.
Publication Year :
2010

Abstract

Homozygosity-mapping approach was used to map the Cenani-Lenz syndrome (CLS) locus to chromosome 11p11.2-q13.1. The study results offer insight into the spectrum of congenital anomallies associated with abnormal lipoprotein receptor-dependent signaling.

Details

Language :
English
ISSN :
00029297
Volume :
86
Issue :
5
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.230105320