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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Dettagli Bibliografici
Pubblicato in:Clin Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2020
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Original Articles
Accesso online: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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