Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. Clinical features may be subtle and highly variable, making the diag...

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Detalhes bibliográficos
Publicado no:G3 (Bethesda)
Main Authors: Marshall, Christian R., Scherer, Stephen W., Zariwala, Maimoona A., Lau, Lynette, Paton, Tara A., Stockley, Tracy, Jobling, Rebekah K., Ray, Peter N., Knowles, Michael R., Hall, David A., Dell, Sharon D., Kim, Raymond H.
Formato: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2015
Assuntos:
Investigations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4528333/
https://ncbi.nlm.nih.gov/pubmed/26139845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.115.019851
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