38 research outputs found
Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.
Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536.
Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial sindrome).
Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal.
Familial recurrence of congenital heart disease: an overview and review of the literature.
The heart and shell. Anatomical and genetic similarities
Phenotypic resemblance does exist between normal and abnormal spiralization of great arteries in vertebrates and the spiral patterns of snail shells. The conserved Nodal gene is involved in the morphogenetic mechanism of these spiralizations in the great arteries of vertebrates and snail shells. These observationswiden the phylogenetic development horizon in humans20,21 and allowus to look at the harmonic heart anatomy from a new evolutionary perspective. © 2011, Mosby, Inc. All rights reserved