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Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature

BACKGROUND: Autosomal‐recessive renal tubular dysgenesis (AR‐RTD) is a rare genetic disorder caused by defects in the renin‐angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. Although the most common outcome is neonatal death from renal failure, pulmona...

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Detalles Bibliográficos
Autores principales: Vincent, Krista M., Alrajhi, Afrah, Lazier, Joanna, Bonin, Brigitte, Lawrence, Sarah, Weiler, Gabrielle, Armour, Christine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034669/
https://www.ncbi.nlm.nih.gov/pubmed/35286024
http://dx.doi.org/10.1002/mgg3.1920