NPHP4 Variants Are Associated With Pleiotropic Heart Malformations - 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; et al. (Circulation research, 2012)
Keywords: Amino Acid Sequence; Animals; Biological and medical sciences; Cohort Studies; Female; Fundamental and applied biological sciences. Psychology; Genetic Pleiotropy - genetics; Genetic Variation - genetics; Genome-Wide Association Study - methods; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Male; Molecular Sequence Data; Pedigree; Proteins - genetics; Vertebrates: cardiovascular system; Zebrafish; Heart; Congenital; nphp4; congenital heart malformations; Vertebrata; Brachydanio rerio; Mammalia; Malformation; Pisces; heterotaxy; cilia; Circulatory system; zebrafish