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Quoted phrase not found in phrase index: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young"
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Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R. Sheppard SE, et al. Am J Med Genet A. 2021 Feb;185(2):566-570. doi: 10.1002/ajmg.a.61978. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33251707 Free PMC article.
Heterozygous pathogenic variants in HNF4A cause hyperinsulinism, maturity onset diabetes of the young type 1, and more rarely Fanconi renotubular syndrome. ...This specific pathogenic variant should be considered in t …
Heterozygous pathogenic variants in HNF4A cause hyperinsulinism, maturity onset diabetes of the young …
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D. Faguer S, et al. Kidney Int. 2011 Oct;80(7):768-76. doi: 10.1038/ki.2011.225. Epub 2011 Jul 20. Kidney Int. 2011. PMID: 21775974 Free article.
Mutations in HNF1B are responsible for a dominantly inherited disease with renal and nonrenal consequences, including maturity-onset diabetes of the young (MODY) type 5. While HNF1B nephropathy is typically responsible for bilateral renal …
Mutations in HNF1B are responsible for a dominantly inherited disease with renal and nonrenal consequences, including maturity-ons …
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
Stanescu DE, Hughes N, Kaplan B, Stanley CA, De León DD. Stanescu DE, et al. J Clin Endocrinol Metab. 2012 Oct;97(10):E2026-30. doi: 10.1210/jc.2012-1356. Epub 2012 Jul 16. J Clin Endocrinol Metab. 2012. PMID: 22802087 Free PMC article.
Case 3 presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Although the latter's features suggested Fanconi-Bickel syndrome, sequencing of the …
Case 3 presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosph …