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Founder mutation in RSPH4A identified in patients of Hispanic descent with Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive, genetically heterogeneous disorder characterized by ciliary dysfunction resulting in chronic oto-sino-pulmonary disease, respiratory distress in term neonates, laterality (situs) defects, and bronchiectasis. Diagnosis has traditionally...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3906677/ https://ncbi.nlm.nih.gov/pubmed/23798057 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22371 |
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