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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Enregistré dans:
Détails bibliographiques
Publié dans:Clin Genet
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Blackwell Publishing Ltd 2020
Sujets:
Original Articles
Accès en ligne: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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