Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

BACKGROUND: Clinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may aid in identifying a specific cause in some cases, the majority of patients remain undiagnosed. Here, we investigated the utility...

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Detalles Bibliográficos
Autores principales: Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743197/
https://www.ncbi.nlm.nih.gov/pubmed/26846091
http://dx.doi.org/10.1186/s12920-016-0167-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743197/
https://www.ncbi.nlm.nih.gov/pubmed/26846091
http://dx.doi.org/10.1186/s12920-016-0167-8

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