Article
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Human mutation - 1 Dec 2015
Hilger Alina C, Halbritter Jan, Pennimpede Tracie, van der Ven Amelie, Sarma Georgia, Braun Daniela A, Porath Jonathan D, Kohl Stefan, Hwang Daw-Yang, Dworschak Gabriel C, Hermann Bernhard G, Pavlova Anna, El-Maarri Osman, Nöthen Markus M, Ludwig Michael, Reutter Heiko, Hildebrandt Friedhelm
Abstract excerpt
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as...
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