Ontology highlight
ABSTRACT:
SUBMITTER: Bartels E
PROVIDER: S-EPMC4126839 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Bartels Enrika E Jenetzky Ekkehart E Solomon Benjamin D BD Ludwig Michael M Schmiedeke Eberhard E Grasshoff-Derr Sabine S Schmidt Dominik D Märzheuser Stefanie S Hosie Stuart S Weih Sandra S Holland-Cunz Stefan S Palta Markus M Leonhardt Johannes J Schäfer Mattias M Kujath Christina C Rissmann Anke A Nöthen Markus M MM Reutter Heiko H Zwink Nadine N
Pediatric surgery international 20120512 7
VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum Genet 127:731-733, 2010) observed an increased prevalence of component features among first-degree relatives of VATER/VACTERL patients suggesting that in some patients, the disorder may be inherited. To replicate these findings, we investigated 8 ...[more]