Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta-Reference-Cited by-同舟云学术

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta

Published:2023-09-06 Issue:11 Volume:31 Page:1337-1341
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Resende Kemelly Karolliny Moreira,Riou Margot Charlotte^ORCID,Yamaguti Paulo Marcio,Fournier Benjamin^ORCID,Rondeau Sophie,Pacot Laurence^ORCID,Berdal Ariane,Felizardo Rufino,Mazzeu Juliana Forte,Cormier-Daire Valérie^ORCID,Gaucher Céline,Acevedo Ana Carolina,de La Dure-Molla Muriel^ORCID

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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