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

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作者信息

Bertola D R, Antequera R, Rodovalho M J, Honjo R S, Albano L M J, Furquim I M, Oliveira L A, Kim C A

机构信息

Genetics Unit, Instituto da Criança, HC/FMUSP, São Paulo, Brazil.

出版信息

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

DOI:10.1002/ajmg.a.32661

PMID:19213025

Abstract

摘要

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引用本文的文献

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相似文献

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.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in .

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Clin Genet. 1996 Jan;49(1):2-5. doi: 10.1111/j.1399-0004.1996.tb04315.x.

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

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Oral Surg Oral Med Oral Pathol. 1973 Dec;36(6):818-23. doi: 10.1016/0030-4220(73)90333-2.

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10.

[Not Available].

Swiss Dent J. 2016;126(9):796-797. doi: 10.61872/sdj-2016-09-02.

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Br Dent J. 1969 Aug 19;127(4):157-64.

Amelogenesis imperfecta. Report of two cases.

Oral Surg Oral Med Oral Pathol. 1975 Mar;39(3):502-5. doi: 10.1016/0030-4220(75)90097-3.

[Amelogenesis imperfecta].

Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove Suppl. 1976;19(5):693-9.

引用本文的文献

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in .

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J Med Case Rep. 2015 Oct 28;9:245. doi: 10.1186/s13256-015-0724-3.

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10.

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Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Feb;119(2):e77-81. doi: 10.1016/j.oooo.2014.09.003. Epub 2014 Sep 16.

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.

Mol Syndromol. 2012 Nov;3(5):223-9. doi: 10.1159/000343746. Epub 2012 Oct 19.