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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424950/
https://ncbi.nlm.nih.gov/pubmed/25669657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv053
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados