Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents.

作者信息

Dellow E L, Harley K E, Unwin R J, Wrong O, Winter G B, Parkins B J

机构信息

Centre for Nephrology and Institute of Urology and Nephrology, The Middlesex Hospital, Royal Free and University College Medical School, London, UK.

出版信息

Nephrol Dial Transplant. 1998 Dec;13(12):3193-6. doi: 10.1093/ndt/13.12.3193.

DOI:10.1093/ndt/13.12.3193

PMID:9870488

Abstract

摘要

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Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents.

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相似文献

Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents.

Nephrol Dial Transplant. 1998 Dec;13(12):3193-6. doi: 10.1093/ndt/13.12.3193.

Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family.

Arch Oral Biol. 2005 Feb;50(2):237-42. doi: 10.1016/j.archoralbio.2004.11.023.

Enamel renal syndrome: a rare case report.

J Indian Soc Pedod Prev Dent. 2012 Apr-Jun;30(2):169-72. doi: 10.4103/0970-4388.100006.

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Feb;123(2):229-234.e2. doi: 10.1016/j.oooo.2016.09.226. Epub 2016 Oct 13.

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Am J Med Genet. 1985 Feb;20(2):233-43. doi: 10.1002/ajmg.1320200205.

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Nephron Physiol. 2011;118(3):p62-5. doi: 10.1159/000322828. Epub 2011 Jan 7.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.

Physicochemical analysis of human pulpal mineralization secondary to FAM20A mutations.

Connect Tissue Res. 2018 Dec;59(sup1):46-51. doi: 10.1080/03008207.2018.1435644.

Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Nephron. 2018;139(2):189-196. doi: 10.1159/000486607. Epub 2018 Feb 13.

Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.

Am J Med Genet A. 2009 Mar;149A(3):532-4. doi: 10.1002/ajmg.a.32661.

引用本文的文献

A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.

Ups J Med Sci. 2024 Sep 13;129. doi: 10.48101/ujms.v129.10228. eCollection 2024.

: Next-generation sequencing sheds light on Witkop's classification.

Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023.

Enamel Renal Syndrome: A Systematic Review.

Indian J Nephrol. 2021 Jan-Feb;31(1):1-8. doi: 10.4103/ijn.IJN_27_19. Epub 2021 Jan 27.

Enamel renal gingival syndrome: A rare case report.

J Indian Soc Periodontol. 2019 Jan-Feb;23(1):69-72. doi: 10.4103/jisp.jisp_532_18.

Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report.

Contemp Clin Dent. 2015 Apr-Jun;6(2):262-5. doi: 10.4103/0976-237X.156063.

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84.

Distal renal tubular acidosis and amelogenesis imperfecta: A rare association.

Indian J Nephrol. 2013 Nov;23(6):452-5. doi: 10.4103/0971-4065.120345.

Amelogenesis imperfecta with bilateral nephrocalcinosis.

BMJ Case Rep. 2013 May 24;2013:bcr2013009370. doi: 10.1136/bcr-2013-009370.

FAM20A mutations can cause enamel-renal syndrome (ERS).

PLoS Genet. 2013;9(2):e1003302. doi: 10.1371/journal.pgen.1003302. Epub 2013 Feb 28.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.