Results 181 to 190 of about 1,327,945 (260)

Penile Agenesis Associated with Anorectal Malformation and Bilateral Renal Agenesis: A Case Report and a Review of the Literature. [PDF]

open access: yesAfr J Paediatr Surg
Adumah CC   +9 more
europepmc   +1 more source

Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.

Fertility and Sterility, 2021
OBJECTIVE 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.
Lin Li   +10 more
semanticscholar   +1 more source

Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.

European Journal of Medical Genetics, 2021
Bilateral 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.
Bushra Al-Shamsi   +5 more
semanticscholar   +1 more source

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