Associated Papers
Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.
Zhang N et al.
Genes, 2026
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.
Al-Shamsi B et al.
European Journal of Medical Genetics, 2022
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
Arora V et al.
Journal of the American Society of Nephrology : Jasn, 2021
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