Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six c...

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Detalles Bibliográficos
Autores principales: Castro-Sánchez, Sheila, Álvarez-Satta, María, Tohamy, Mohamed A., Beltran, Sergi, Derdak, Sophia, Valverde, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553726/
https://www.ncbi.nlm.nih.gov/pubmed/28800606
http://dx.doi.org/10.1371/journal.pone.0183081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553726/
https://www.ncbi.nlm.nih.gov/pubmed/28800606
http://dx.doi.org/10.1371/journal.pone.0183081

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