TCTN3 Mutations Cause Mohr-Majewski Syndrome

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome...

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Main Authors: Thomas, Sophie, Legendre, Marine, Saunier, Sophie, Bessières, Bettina, Alby, Caroline, Bonnière, Maryse, Toutain, Annick, Loeuillet, Laurence, Szymanska, Katarzyna, Jossic, Frédérique, Gaillard, Dominique, Yacoubi, Mohamed Tahar, Mougou-Zerelli, Soumaya, David, Albert, Barthez, Marie-Anne, Ville, Yves, Bole-Feysot, Christine, Nitschke, Patrick, Lyonnet, Stanislas, Munnich, Arnold, Johnson, Colin A., Encha-Razavi, Férechté, Cormier-Daire, Valérie, Thauvin-Robinet, Christel, Vekemans, Michel, Attié-Bitach, Tania
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415538/
https://ncbi.nlm.nih.gov/pubmed/22883145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.06.017
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