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,...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216828/
https://www.ncbi.nlm.nih.gov/pubmed/32052416
http://dx.doi.org/10.1111/cge.13721

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216828/
https://www.ncbi.nlm.nih.gov/pubmed/32052416
http://dx.doi.org/10.1111/cge.13721

Ejemplares similares