Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma
在一名被诊断为非大疱性先天性鱼鳞病样红皮病的土耳其火棉胶婴儿中，发现了TGM1基因的新型复合杂合突变
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doi:10.5021/ad.21.134
Gülnerman, Elif Keleş; Hanedan, Nurcan; Akillioglu, Merve; Kayhan, Gülsüm; Adişen, Esra; Erdem, Özlem; Hirfanoğlu, İbrahim Murat; Ergenekon, Ebru; Önal, Eray Esra; Türkyilmaz, Canan; Koç, Esin
