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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4849851/
https://ncbi.nlm.nih.gov/pubmed/27148584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000703
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