Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1
先天性皮肤缺失伴大疱性表皮松解症:先天性角膜混浊和食管胃梗阻,包括PLEC、LAMC2、ITGB4和COL7A1基因型谱的扩展
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.847150
Pongmee, Pharuhad; Wittayakornrerk, Sanchawan; Lekwuttikarn, Ramrada; Pakdeeto, Sasikarn; Watcharakuldilok, Piangor; Prempunpong, Chatchay; Tim-Aroon, Thipwimol; Puttanapitak, Chawintee; Wattanasoontornsakul, Piyawan; Junhasavasdikul, Thitiporn; Wongkittichote, Parith; Noojarern, Saisuda; Wattanasirichaigoon, Duangrurdee