title: Breaking symmetry: a clinical overview of left-right patterning.
abstract: It is increasingly recognized that mutations in genes and pathways critical for left-right (L-R) patterning are involved in common isolated congenital malformations such as congenital heart disease, biliary tract anomalies, renal polycystic disease, and malrotation of the intestine, indicating that disorders of L-R development are far more common than a 1 in 10,000 incidence of heterotaxia might suggest. Understanding L-R patterning disorders requires knowledge of molecular biology, embryology, pediatrics, and internal medicine and is relevant to day-to-day clinical genetics practice. We have reviewed data from mammalian (human and mouse) L-R patterning disorders to provide a clinically oriented perspective that might afford the clinician or researcher additional insights into this diagnostically challenging area.
authors.affiliation: Developmental Biology Program, Victor Chang Cardiac Research Institute, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Maclean
authors.forename: S L
authors.initials: SL
authors.lastname: Dunwoodie
mesh_terms: D000818:Animals; D019521:Body Patterning / Q000235:genetics*; D047108:Embryonic Development; D007839:Functional Laterality / Q000235:genetics*; D006801:Humans; D051379:Mice; D010641:Phenotype; D015398:Signal Transduction; D013577:Syndrome