Associated Papers
A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system.
Wang Y et al.
American Journal of Medical Genetics. Part A, 2024
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A et al.
Hgg Advances, 2023
The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.
Kyei-Barffour I et al.
The Yale Journal of Biology and Medicine, 2021
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK et al.
Orphanet Journal of Rare Diseases, 2020
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
Jacquinet A et al.
Clinical Genetics, 2020
Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis.
Wang A et al.
Genetic Testing and Molecular Biomarkers, 2020
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.
Schrauwen I et al.
Genes, 2020
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
Herlin MK et al.
Human Reproduction (oxford, England), 2019
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