Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01440-7.pdf
Reference17 articles.
1. Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, et al. Amelogenesis imperfecta; genes, proteins, and pathways. Front Physiol. 2017;8:1–22.
2. Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007;2:1–11.
3. de La Dure Molla M, Bournier BP, Manzanares MC, Acevedo AC, Hennekam RC, Friedlander L, et al. Elements of morphology: standard terminology for the teeth and classifying genetic dental disorders. Am J Med Genet A. 2019;179:1913–81.
4. Wright JT. Enamel phenotypes: genetic and environmental determinants. Genes. 2023;14:545–65.
5. Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, et al. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet. 2016;53:98–110.
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1. Deep phenotyping and population-level data can help resolve genomic variants;European Journal of Human Genetics;2023-10-20
2. Crucial Role of microRNAs as New Targets for Amelogenesis Disorders Detection;Current Drug Targets;2023-10
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