id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_4rpbjg2g6nedfgf4lpdgg4s5la	Makia J. Marafie	Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes	2015	5	.pdf	application/pdf	2684	292	49	in a family with a novel DNAH5 gene mutation About 50% of the affected patients have situs inversus totalis leading to Kartagener syndrome Case report: Here we are presenting Kartagener syndrome in a consanguineous Kuwaiti family with a novel pathogenic DNAH5 gene mutation; namely c.9864dupA; [p.Pro3289ThrfsStop52], Conclusion: Molecular test helped in confirmation of the clinical diagnosis and in providing better management of the affected family members, which in turn could significantly improve overall affected patients have situs inversus totalis leading to KS. novel homozygous DNAH5 gene mutation, and presenting different phenotypes. Figure 2 Electropherogram of the homozygous mutation c.9864dupA (arrow), exon 58 of DNAH5 gene found in patient 2 and her Mutations in DNAH5 cause primary ciliary dyskinesia and Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes	./cache/work_4rpbjg2g6nedfgf4lpdgg4s5la.pdf	./txt/work_4rpbjg2g6nedfgf4lpdgg4s5la.txt