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Clin Genet. 2004 Jun;65(6):441-57.

Breaking symmetry: a clinical overview of left-right patterning.

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Developmental Biology Program, Victor Chang Cardiac Research Institute, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.


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.

[Indexed for MEDLINE]

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