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Human Genetics of Atrioventricular Septal Defect.
Maslen CL. Maslen CL. Adv Exp Med Biol. 2024;1441:559-571. doi: 10.1007/978-3-031-44087-8_30. Adv Exp Med Biol. 2024. PMID: 38884732 Review.
Atrioventricular septal defects (AVSD), also known as a common atrioventricular canal (CAVC), are clinically severe heart malformations that affect about 1 out of every 2100 live births. AVSD makes up about 5% of all congenital heart defects. AVSD is associated with cytoge …
Atrioventricular septal defects (AVSD), also known as a common atrioventricular canal (CAVC), are clinically severe heart malformations that …
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Leigh MW, et al. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Genet Med. 2009. PMID: 19606528 Free PMC article. Review.
Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. ...Ciliopathies involving sensory cili …
Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, …