A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different patterns of inheritance and genetic heterogeneity are known in this syndrome...

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Detalles Bibliográficos
Autores principales: Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345063/
https://www.ncbi.nlm.nih.gov/pubmed/28281571
http://dx.doi.org/10.1038/srep44138

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345063/
https://www.ncbi.nlm.nih.gov/pubmed/28281571
http://dx.doi.org/10.1038/srep44138

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