Associated Papers
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.
Zeytinoglu M et al.
Clinical Dysmorphology, 2013
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
D'Asdia MC et al.
European Journal of Medical Genetics, 2013
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