A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, i...

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Detalles Bibliográficos
Autores principales: Ozantürk, Ayşegül, Davis, Erica E., Sabo, Aniko, Weiss, Marjan M., Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A., Gibbs, Richard A., Özgül, Köksal R., Yalnızoglu, Dilek, Serdaroglu, Esra, Dursun, Ali, Katsanis, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849851/
https://www.ncbi.nlm.nih.gov/pubmed/27148584
http://dx.doi.org/10.1101/mcs.a000703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849851/
https://www.ncbi.nlm.nih.gov/pubmed/27148584
http://dx.doi.org/10.1101/mcs.a000703

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