Variant Characterisation and Clinical Profile in a Large Cohort of Patients with Ellis-van Creveld Syndrome and a Family with Weyers Acrofacial Dysostosis Umut Altunoglu , Adrian Palencia-Campos , Nilay Gunes , Gozde Tutku Turgut , Julian Nevado , Pablo Lapunzina , Maria Valencia , Asier Iturrate , Ghada Otaify , Rasha Elhossini , Adel Ashour , Asmaa K. Amin , Rania F. Elnahas , Elisa Fernandez-Nunez , Carmen-Lisset Flores , Pedro Arias , Jair Tenorio , Carlos Israel Chamorro Fernandez , Yeliz Guven , Elif Ozsu , Beray Selver Eklioglu , Marisol Ibarra-Ramirez , Birgitte Rode Diness , Birute Burnyte , Houda Ajmi , Zafer Yuksel , Ruken Yildirim , Edip Unal , Ebtesam Abdalla , Mona Aglan , Hulya Kayserili , Beyhan Tuysuz , Victor Ruiz-Perez JOURNAL OF MEDICAL GENETICS（2024）
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Human Genetics, Molecular Medicine, Pediatrics
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