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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Report
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares