Yazar "Karakus, Fatma Nur" için listeleme
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A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
Karacan, Ilker; Kucukkaya, Reyhan Diz; Karakus, Fatma Nur; Solakoglu, Seyhun; Tolun, Aslihan; Hancer, Veysel Sabri; Turanli, Eda Tahir (GALENOS YAYINCILIK, 2019)Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose arid elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations ...
