New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non‐syndromic AI. Recently variants in RELT, encoding an orphan receptor in the tumour necrosis factor (TNF) superfamily,...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Nikolopoulos, Georgios, Smith, Claire E.L., Brookes, Steven J., El‐Asrag, Mohammed E., Brown, Catriona J., Patel, Anesha, Murillo, Gina, O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216828/
https://ncbi.nlm.nih.gov/pubmed/32052416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13721
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