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Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome

INTRODUCTION: Ellis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES: We report on a Saudi family with two affected children....

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Detalles Bibliográficos
Autores principales:	Al-Fardan, Abeer, Al-Qattan, Mohammad M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575438/ https://www.ncbi.nlm.nih.gov/pubmed/28854412 http://dx.doi.org/10.1016/j.ijscr.2017.08.022

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