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Novel TSPEAR mutations in non-syndromic oligodontia.

作者信息

Song Ji-Soo, Bae Miah, Kim Jung-Wook

机构信息

Department of Pediatric Dentistry, Seoul National University Dental Hospital, Seoul, Korea.

Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.

出版信息

Oral Dis. 2020 May;26(4):847-849. doi: 10.1111/odi.13316. Epub 2020 Mar 19.

DOI:10.1111/odi.13316

PMID:32112661

Abstract

摘要

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相似文献

Novel TSPEAR mutations in non-syndromic oligodontia.

Oral Dis. 2020 May;26(4):847-849. doi: 10.1111/odi.13316. Epub 2020 Mar 19.

A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.

PLoS One. 2015 Sep 25;10(9):e0138221. doi: 10.1371/journal.pone.0138221. eCollection 2015.

Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.

Arch Oral Biol. 2014 Mar;59(3):349-53. doi: 10.1016/j.archoralbio.2013.12.009. Epub 2013 Dec 31.

Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2019 Jul;23(7):3103-3113. doi: 10.1007/s00784-018-2731-4. Epub 2018 Nov 14.

Mutational analysis of families affected with molar oligodontia.

Connect Tissue Res. 2002;43(2-3):296-300. doi: 10.1080/03008200290000961.

Novel mutation of the initiation codon of PAX9 causes oligodontia.

J Dent Res. 2005 Jan;84(1):43-7. doi: 10.1177/154405910508400107.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26.

EDA gene mutations underlie non-syndromic oligodontia.

J Dent Res. 2009 Feb;88(2):126-31. doi: 10.1177/0022034508328627.

Non-syndromic oligodontia with a novel mutation of PAX9.

J Dent Res. 2011 Mar;90(3):382-6. doi: 10.1177/0022034510390042. Epub 2010 Nov 22.

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.

Arch Oral Biol. 2013 May;58(5):462-6. doi: 10.1016/j.archoralbio.2012.12.008. Epub 2013 Jan 11.

引用本文的文献

Genetic Aspects of Tooth Agenesis.

Genes (Basel). 2025 May 15;16(5):582. doi: 10.3390/genes16050582.

Exonic and Intronic Variants Isolated from Korean Children with Non-Syndromic Tooth Agenesis.

Diagnostics (Basel). 2025 Jan 28;15(3):310. doi: 10.3390/diagnostics15030310.

Novel compound heterozygous variants in the gene causing autosomal recessive hearing loss in a Chinese family.

Pediatr Investig. 2024 Oct 10;8(4):313-315. doi: 10.1002/ped4.12454. eCollection 2024 Dec.

Orthodontic Treatment of a Patient With Non-Syndromic Oligodontia and a Skeletal Class Ⅲ Relationship: A Case Report and Six Years' Follow-Up.

Cureus. 2024 Jun 17;16(6):e62563. doi: 10.7759/cureus.62563. eCollection 2024 Jun.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of -related autosomal recessive ectodermal dysplasia 14.

HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13.

Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.

Curr Osteoporos Rep. 2022 Dec;20(6):389-397. doi: 10.1007/s11914-022-00761-8. Epub 2022 Nov 15.

Confirmation of a Phenotypic Entity for Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Genes (Basel). 2022 Jun 13;13(6):1056. doi: 10.3390/genes13061056.

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Am J Med Genet A. 2021 Aug;185(8):2417-2433. doi: 10.1002/ajmg.a.62347. Epub 2021 May 27.

Novel homozygous KREMEN1 mutation causes ectodermal dysplasia.

Oral Dis. 2022 Apr;28(3):843-845. doi: 10.1111/odi.13921. Epub 2021 Jun 9.

Suppr超能文献

Novel TSPEAR mutations in non-syndromic oligodontia.

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机构信息

出版信息

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