A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosi
Articles > Case Report · 2013
Authors: Mert ZEYTİNOĞLU, Ayça AYKUT, FİLİZ HAZAN, ISABELLA TORRENTE, Mehmet Cemal AKAY, Deniz Y Karapinar,, CANAN VERGİN, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
CLINIICAL DYSMORPHOLOGY, Journal Indexed in SCI Expanded, International, 2013, vol 22, pp 140-142