Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Dentistry
Link
https://link.springer.com/content/pdf/10.1007/s00784-022-04485-y.pdf
Reference21 articles.
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2. Salvi A, Giacopuzzi E, Bardellini E, Amadori F, Ferrari L, De Petro G, Borsani G, Majorana A (2016) Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. Int J Mol Med 38(5):1338–1348. https://doi.org/10.3892/ijmm.2016.2742
3. Acikgoz A, Kademoglu O, Elekdag-Turk S, Karagoz F (2007) Hypohidrotic ectodermal dysplasia with true anodontia of the primary dentition. Quintessence Int 38(10):853–858
4. Salas-Alanis JC, Cepeda-Valdes R, Gonzalez-Santos A, Amaya-Guerra M, Kurban M, Christiano AM (2011) Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia. Rev Med Chile 139(12):1601–1604
5. Fauzi NH, Ardini YD, Zainuddin Z, Lestari W (2018) A review on non-syndromic tooth agenesis associated with PAX9 mutations. Jpn Dent Sci Rev 54(1):30–36. https://doi.org/10.1016/j.jdsr.2017.08.001
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1. Tooth agenesis related to a novel KDF1 variant: A case report and literature review;Oral Diseases;2024-03-19
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3. Enamel Structure Defects in Kdf1 Missense Mutation Knock-in Mice;Biomedicines;2023-02-07
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