Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long-term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity o...

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Publicado no:Mol Med Rep
Main Authors: Kano, Gen, Tsujii, Hisashi, Takeuchi, Kazuhiko, Nakatani, Kaname, Ikejiri, Makoto, Ogawa, Satoru, Kubo, Hisami, Nagao, Mizuho, Fujisawa, Takao
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5355724/
https://ncbi.nlm.nih.gov/pubmed/27779714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.5871
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