Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference5 articles.
1. Biallelic pathogenic GFRA1 variants cause autosomal recessive bilateral renal agenesis;Arora;J. Am. Soc. Nephrol.,2021
2. GFRα1 is an essential receptor component for GDNF in the developing nervous system and kidney;Cacalano;Neuron,1998
3. Stage specific requirement of Gfrα1 in the ureteric epithelium during kidney development;Keefe Davis;Mech. Dev.,2013
4. Regulation of ureteric bud outgrowth and the consequences of disrupted development;Lu,2015
5. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract;Van Der Ven;J. Am. Soc. Nephrol.,2018
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1. The genetic etiologies of bilateral renal agenesis;Prenatal Diagnosis;2024-01-05
2. SMAD4 loss-of-function mutation predisposes to congenital heart disease;European Journal of Medical Genetics;2023-01
3. Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract;Genes;2022-09-21
4. A null founder variant in NPNT , encoding nephronectin, causes autosomal recessive renal agenesis;Clinical Genetics;2022-03-22
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