Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT. Only three genes have been confirmed to have a causal role in humans (IT...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Arora, Veronica, Khan, Suliman, W. El-Hattab, Ayman, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M., Bauer, Peter, Verma, Ishwar C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2021
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7894660/
https://ncbi.nlm.nih.gov/pubmed/33020172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2020040478
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados