Ontology highlight
ABSTRACT:
SUBMITTER: Reutter H
PROVIDER: S-EPMC5207487 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Reutter Heiko H Hilger Alina C AC Hildebrandt Friedhelm F Ludwig Michael M
Pediatric nephrology (Berlin, Germany) 20160208 11
The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a "Renal" phenotype comprising a large spectrum of congenital rena ...[more]