De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapping developmental anomalies, and who all have de n...

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Detalles Bibliográficos
Autores principales: Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731360/
https://www.ncbi.nlm.nih.gov/pubmed/31402090
http://dx.doi.org/10.1016/j.ajhg.2019.07.005

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