Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual...

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Main Authors: Daniel L Polla, Maria T O Cardoso, Mayara C B Silva, Isabela C C Cardoso, Cristina T N Medina, Rosenelle Araujo, Camila C Fernandes, Alessandra M M Reis, Rosangela V de Andrade, Rinaldo W Pereira, Robert Pogue
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4575211?pdf=render

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http://europepmc.org/articles/PMC4575211?pdf=render

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