Article
ANKS3 is mutated in a family with autosomal recessive laterality defect.
Human genetics - 1 Nov 2016
Shamseldin Hanan E, Yakulov Toma Antonov, Hashem Amal, Walz Gerd, Alkuraya Fowzan S
Abstract excerpt
Laterality defects are heterogeneous groups of congenital malformations that arise from perturbed asymmetrical development of visceral organs. The central role of the motile cilia-generated nodal flow in breaking early embryonic symmetry is reflected in the large contribution of ciliary genes to the etiology of these disorders. In a consanguineous multiplex family with a laterality defect that resembles situs...
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