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ENAM mutations and digenic inheritance
BACKGROUND: ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective. METHODS: Whole exome sequences of recruited AI probands were initially screened for mutat...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785452/ https://www.ncbi.nlm.nih.gov/pubmed/31478359 http://dx.doi.org/10.1002/mgg3.928 |