Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Tahir Atik, Asuman Koparir, Guney Bademci, Joseph Foster, Umut Altunoglu, Gül Yesiltepe Mutlu, Sarah Bowdin, Nursel Elcioglu, Gulsen A. Tayfun, Sevinc Sahin Atik, Mustafa Ozen, Ferda Ozkinay, Yasemin Alanay, Hulya Kayserili, Steffen Thiel, Mustafa Tekin

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Medicine & Life Sciences