Publications:

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

American Journal Of Human Genetics

Li, Yun Y; Pawlik, Barbara B; Elcioglu, Nursel N; Aglan, Mona M; Kayserili, Hülya H; Yigit, Gökhan G; Percin, Ferda F; Goodman, Frances F; Nürnberg, Gudrun G; Cenani, Asim A; Urquhart, Jill J; Chung, Boi-Dinh BD; Ismail, Samira S; Amr, Khalda K; Aslanger, Ayca D AD; Becker, Christian C; Netzer, Christian C; Scambler, Pete P; Eyaid, Wafaa W; Hamamy, Hanan H; Clayton-Smith, Jill J; Hennekam, Raoul R; Nürnberg, Peter P; Herz, Joachim J; Temtamy, Samia A SA; Wollnik, Bernd B

Publication Date: 2010-05-14

Variant appearance in text: LRP4: 547+1G>A

PubMed Link: 20381006

Variant Present in the following documents:

• Main text

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