• A case report of renal dysplasia with papillary adenoma
• A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review
• A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1
• A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis
• A renal aplasia case mimicking radiologically as unilateral renal agenesis in a child with spina bifida, atresia ani and unilateral undescended testis: a case report
• Absence of cell surface expression of human ACE leads to perinatal death
• Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition
• Autosomal recessive renal tubular dysgenesis: The need for clinical vigilance in anuric fetuses with normal renal sonography
• Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease
• Caliceal diverticulum with ureteropelvic junction obstruction in a dysplastic kidney: a pediatric case report
• CLINICAL EXPERIENCE IN DIAGNOSIS AND MANAGEMENT OF COMPLETE DUPLICATION OF KIDNEY AND URETER IN 106 CHILDREN
• Congenital defect of thumbnails. A dermatologic manifestation of a congenital syndrome including musculoskeletal defects, absent patellae, and renal dysplasia
• Congenital disorders of renal tubulointerstitial tissue
• Congenital multi-cystic renal dysplasia. Study of 3 cases
• Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations
• Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound
• Does VURD syndrome impact voiding efficiency in posterior urethral valves?
• Effect of Hydrocortisone on Angiotensinogen (<em>AGT</em>) Mutation-Causing Autosomal Recessive Renal Tubular Dysgenesis
• Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature
• Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor
• Growth Restriction, Osteopenia, Placental Massive Perivillous Fibrin Deposition With (or Without) Intervillous Histiocytes and Renal Tubular Dysgenesis-An Emerging Complex
• HDR syndrome, detected in the neonatal period by newborn hearing screening
• Hereditary renal dysplasia and blindness
• Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations
• Impaired proteostasis contributes to renal tubular dysgenesis
• Inherited renal tubular dysgenesis may not be universally fatal
• Juxta-calyceal cyst of the right kidney; dysplasia of the left kidney; hypertensive albuminuric nephritis; clinical status of the patient 4 years after ablation of the dysplastic kidney
• Late Preterm Infant With Postnatal Diagnosis of Renal Tubular Dysgenesis
• Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking
• Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature
• Missense Variants in <em>GFRA1</em> and <em>NPNT</em> Are Associated with Congenital Anomalies of the Kidney and Urinary Tract
• Morphological and functional analyses of two infants with obstructive renal dysplasia
• NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy
• Obstructed Hemivagina with Ipsilateral Renal Anomaly
• Oligohydramnios associated with sonographically normal kidneys
• Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting
• PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database
• Posterior Urethral Valves, Unilateral Vesicoureteral Reflux, and Renal Dysplasia (VURD) Syndrome: Long-Term Longitudinal Evaluation of the Kidney Function
• Prenatal diagnosis of autosomal recessive renal tubular dysgenesis caused by variants in the ACE gene: Two fetuses with anhydramnios
• Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline
• RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis
• Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review
• Renal dysplasia and pyelonephritis in infants and children. I
• Renal dysplasia associated with dysraphic equivalents of the brain and spinal cord; with consideration of the problem as one of constitutional pathology
• Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns
• Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts
• Renal oligo- and anhydramnios: cause, course and outcome--a single-center study
• Renal tubular dysgenesis
• Renal tubular dysgenesis and mutations in the renin-angiotensin system genes
• RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM
• Research progress of hypoparathyroidism-deafness-renal dysplasia syndrome
• Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE
• Risk factors for end stage renal disease in children with anorectal malformation and outcome comparison to children with isolated urological anomalies
• Segmental renal dysplasia presenting as a solid mass on sonography
• Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
• Stromal β-catenin overexpression contributes to the pathogenesis of renal dysplasia
• TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
• THE VALUE OF UROGRAPHIC AND ANGIOGRAPHIC RESEARCH IN THE DIAGNOSIS OF RENAL DYSPLASIA
• Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis
• Whole exome sequencing identifies c.963T &gt; A and c.492 + 1G &gt; A mutations in <em>REN</em> responsible for autosomal recessive renal tubular dysgenesis