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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2015
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694127/
https://ncbi.nlm.nih.gov/pubmed/26740946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.164
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