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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Bibliographic Details
Published in:	Scientific reports Vol. 7; no. 1; p. 44138
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 10-03-2017 Nature Publishing Group
Subjects:	45/77 692/4017 692/699/375/366 Arthrogryposis Biologia molecular Chromosome 15 Developmental neurobiology Genes Genetic disorders Genomes Heart diseases Heredity Heterogeneity Humanities and Social Sciences MAGEL2 gene Molecular biology multidisciplinary Mutation Neurobiologia del desenvolupament Nonsense mutation Opitz syndrome Prader-Willi syndrome Retrograde transport Science Ubiquitination
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