Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyp...

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Detalhes bibliográficos
Main Authors: O'Sullivan, James, Bitu, Carolina C., Daly, Sarah B., Urquhart, Jill E., Barron, Martin J., Bhaskar, Sanjeev S., Martelli-Júnior, Hercilio, dos Santos Neto, Pedro Eleuterio, Mansilla, Maria A., Murray, Jeffrey C., Coletta, Ricardo D., Black, Graeme C.M., Dixon, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146735/
https://ncbi.nlm.nih.gov/pubmed/21549343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.005
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