Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.
Krista Marie VincentAfrah AlrajhiJoanna LazierBrigitte BoninSarah LawrenceGabrielle WeilerChristine M ArmourPublished in: Molecular genetics & genomic medicine (2022)
While AR-RTD is most often a lethal disease in the neonatal period, it is not universally so. A better understanding of the factors affecting survival will help to guide prognostication and medical decision-making.