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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2020
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Original Articles
Online adgang: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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