Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-020-00795-0.pdf
Reference33 articles.
1. Yosypiv IV (2012) Congenital anomalies of the kidney and urinary tract: a genetic disorder? Int J Nephrol 2012:909083
2. Queisser-Luft A, Stolz G, Wiesel A, Schlaefer K, Spranger J (2002) Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet 266(3):163–167
3. Seikaly MG, Ho PL, Emmett L, Fine RN, Tejani A (2003) Chronic renal insufficiency in children: the 2001 annual report of the NAPRTCS. Pediatr Nephrol 18(8):796–804
4. Pennesi M, Amoroso S, Bassanese G, Pintaldi S, Giacomini G, Barbi E (2019) Frequency of urinary tract infection in children with antenatal diagnosis of urinary tract dilatation. Arch Dis Child 105(3):260–263
5. Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N et al (2005) Mutations in genes in the renin–angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 37(9):964–968
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