A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited defects of enamel formation. In isolated AI (no additional segregating features), mutations in at least 7 genes are known so far, causing dominant, recessive or X-linked AI and allowing the identification o...

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Main Authors: Kuechler, A., Hentschel, J., Kurth, I., Stephan, B., Prott, E.-C., Schweiger, B., Schuster, A., Wieczorek, D., Lüdecke, H.-J.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
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Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3531948/
https://ncbi.nlm.nih.gov/pubmed/23293580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000343746
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