A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype is shared in both conditions. On Sanger sequencing of FAM20A in cases with...

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Detalles Bibliográficos
Autores principales: Poulter, James A., Smith, Claire E. L., Murrillo, Gina, Silva, Sandra, Feather, Sally, Howell, Marianella, Crinnion, Laura, Bonthron, David T., Carr, Ian M., Watson, Christopher M., Inglehearn, Chris F., Mighell, Alan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694127/
https://www.ncbi.nlm.nih.gov/pubmed/26740946
http://dx.doi.org/10.1002/mgg3.164

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