Article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
American journal of medical genetics. Part A - 1 Dec 2021
Kolvenbach Caroline M, van der Ven Amelie T, Kause Franziska, Shril Shirlee, Scala Marcello, Connaughton Dervla M, Mann Nina, Nakayama Makiko, Dai Rufeng, Kitzler Thomas M, Schneider Ronen, Schierbaum Luca, Schneider Sophia, Accogli Andrea, Torella Annalaura, Piatelli Gianluca, Nigro Vincenzo, Capra Valeria, Hoppe Bernd, Märzheuser Stefanie, Schmiedeke Eberhard, Rehm Heidi L, Mane Shrikant, Lifton Richard P, Dworschak Gabriel C, Hilger Alina C, Reutter Heiko, Hildebrandt Friedhelm
Abstract excerpt
The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only...
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