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5. Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. Dourado MR; Dos Santos CRR; Dumitriu S; Iancu D; Albanyan S; Kleta R; Coletta RD; Marques Mesquita AT Eur J Med Genet; 2019 Nov; 62(11):103561. PubMed ID: 30394349 [TBL] [Abstract][Full Text] [Related]
6. Enamel-renal-gingival syndrome and FAM20A mutations. Kantaputra PN; Kaewgahya M; Khemaleelakul U; Dejkhamron P; Sutthimethakorn S; Thongboonkerd V; Iamaroon A Am J Med Genet A; 2014 Jan; 164A(1):1-9. PubMed ID: 24259279 [TBL] [Abstract][Full Text] [Related]
7. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. Nitayavardhana I; Theerapanon T; Srichomthong C; Piwluang S; Wichadakul D; Porntaveetus T; Shotelersuk V Mol Genet Genomics; 2020 Jul; 295(4):923-931. PubMed ID: 32246227 [TBL] [Abstract][Full Text] [Related]
8. Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation. Kantaputra PN; Bongkochwilawan C; Kaewgahya M; Ohazama A; Kayserili H; Erdem AP; Aktoren O; Guven Y Am J Med Genet A; 2014 Aug; 164A(8):2124-8. PubMed ID: 24756937 [No Abstract] [Full Text] [Related]
10. Enamel renal syndrome: a rare case report. Kala Vani SV; Varsha M; Sankar YU J Indian Soc Pedod Prev Dent; 2012; 30(2):169-72. PubMed ID: 22918105 [TBL] [Abstract][Full Text] [Related]
11. Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. Dellow EL; Harley KE; Unwin RJ; Wrong O; Winter GB; Parkins BJ Nephrol Dial Transplant; 1998 Dec; 13(12):3193-6. PubMed ID: 9870488 [No Abstract] [Full Text] [Related]
12. Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. de la Dure-Molla M; Quentric M; Yamaguti PM; Acevedo AC; Mighell AJ; Vikkula M; Huckert M; Berdal A; Bloch-Zupan A Orphanet J Rare Dis; 2014 Jun; 9():84. PubMed ID: 24927635 [TBL] [Abstract][Full Text] [Related]
13. Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. Paula LM; Melo NS; Silva Guerra EN; Mestrinho DH; Acevedo AC Arch Oral Biol; 2005 Feb; 50(2):237-42. PubMed ID: 15721155 [TBL] [Abstract][Full Text] [Related]
14. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Cho SH; Seymen F; Lee KE; Lee SK; Kweon YS; Kim KJ; Jung SE; Song SJ; Yildirim M; Bayram M; Tuna EB; Gencay K; Kim JW Hum Mutat; 2012 Jan; 33(1):91-4. PubMed ID: 21990045 [TBL] [Abstract][Full Text] [Related]
16. Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. Lubinsky M; Angle C; Marsh PW; Witkop CJ Am J Med Genet; 1985 Feb; 20(2):233-43. PubMed ID: 3872071 [TBL] [Abstract][Full Text] [Related]