Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25853
Abstract: Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and… read more here.
Keywords: primary ciliary; ciliary dyskinesia; laterality; beyond chest ... See more keywords
Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects
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DOI: 10.1186/s12881-017-0444-1
Abstract: BackgroundPerturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or… read more here.
Keywords: laterality; dand5; laterality defects; congenital heart ... See more keywords
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.861236
Abstract: Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right… read more here.
Keywords: genetic variants; laterality; spectrum genetic; left right ... See more keywords