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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Udgivet i:PLoS One
Main Authors: Castro-Sánchez, Sheila, Álvarez-Satta, María, Tohamy, Mohamed A., Beltran, Sergi, Derdak, Sophia, Valverde, Diana
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5553726/
https://ncbi.nlm.nih.gov/pubmed/28800606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0183081
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