Neonatal Purpura Fulminans in a Patient With Arterial Thrombosis and Congenital Renal Agenesis. [PDF]
Abbaker MM +3 more
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Bicornuate bicollis uterus with right cervical stenosis and ipsilateral renal agenesis. [PDF]
Nik Mhd Nor NS +2 more
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A case report on rare co-occurrence of invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis, and bicornuate uterus: is it a new triad? [PDF]
Mbwambo OJ +4 more
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Penile Agenesis Associated with Anorectal Malformation and Bilateral Renal Agenesis: A Case Report and a Review of the Literature. [PDF]
Adumah CC +9 more
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A case with an ectopic ejaculatory duct opening into the bladder trigone in Zinner syndrome, congenital unilateral renal agenesis, and an ipsilateral seminal vesicle cyst. [PDF]
Hyuga T, Tanabe K, Kubo T, Moriya K.
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Early-onset severe ovarian endometriosis in adolescents with completely obstructed Müllerian anomalies accompanied by ipsilateral renal agenesis: two case reports. [PDF]
Yu BR, Chae HS, Rheu CH.
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Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.
Fertility and Sterility, 2021OBJECTIVE To explore the genetic causes of Herlyn-Werner-Wunderlich syndrome (HWWS) using whole-exome sequencing. DESIGN Retrospective genetic study. SETTING Academic medical center. PATIENT(S) Twelve patients with HWWS.
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Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.
European Journal of Medical Genetics, 2021Bilateral renal agenesis belongs to a group of perinatal lethal renal diseases. To date, pathogenic variants in three genes (ITGA8, GREB1L, and FGF20) have been shown to cause renal agenesis in humans.
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