Article
NPHP4 variants are associated with pleiotropic heart malformations.
Circulation research - 8 Jun 2012
French Vanessa M, van de Laar Ingrid M B H, Wessels Marja W, Rohe Christan, Roos-Hesselink Jolien W, Wang Guangliang, Frohn-Mulder Ingrid M E, Severijnen Lies-Anne, de Graaf Bianca M, Schot Rachel, Breedveld Guido, Mientjes Edwin, van Tienhoven Marianne, Jadot Elodie, Jiang Zhengxin, Verkerk Annemieke, Swagemakers Sigrid, Venselaar Hanka, Rahimi Zohreh, Najmabadi Hossein, Meijers-Heijboer Hanne, de Graaff Esther, Helbing Wim A, Willemsen Rob, Devriendt Koen, Belmont John W, Oostra Ben A, Amack Jeffrey D, Bertoli-Avella Aida M
Abstract excerpt
RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic mutations causing cardiac laterality defects. METHODS AND RESULTS: We performed a genome-wide linkage analysis in...
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