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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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| Pubblicato in: | Mol Med Rep |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
D.A. Spandidos
2016
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| Soggetti: | |
| Accesso online: | 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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