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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）

Cited 1|Views44
Key words
Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Human Genetics,Molecular Medicine,Pediatrics
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