Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (A...

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Detalles Bibliográficos
Autores principales: Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, Bloch-Zupan, Agnès
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950/
https://www.ncbi.nlm.nih.gov/pubmed/25669657
http://dx.doi.org/10.1093/hmg/ddv053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950/
https://www.ncbi.nlm.nih.gov/pubmed/25669657
http://dx.doi.org/10.1093/hmg/ddv053

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