Weyers acrofacial dysostosis
Definition:
References:
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[1]. Maria Cecilia D'Asdia, et al. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. Eur J Med Genet. 2013 Feb;56(2):80-7. [Content Brief]
[2]. T D Howard, et al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet. 1997 Dec;61(6):1405-12. [Content Brief]
[3]. Victor L Ruiz-Perez, et al. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. [Content Brief]
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