Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract.
Shoichiro KandaMasaki OhmurayaHiroyuki AkagawaShigeru HoritaYasuhiro YoshidaNaoto KanekoNoriko SugawaraKiyonobu IshizukaKenichiro MiuraYutaka HaritaToshiyuki YamamotoAkira OkaKimi ArakiToru FurukawaMotoshi HattoriPublished in: Journal of the American Society of Nephrology : JASN (2019)
The identification of a deletion in CBWD1 gene in two siblings with CAKUT implies a role for CBWD1 in the etiology of some cases of CAKUT.