Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature
泰国新生儿交界型大疱性表皮松解症伴幽门闭锁的严重表型：ITGB4基因复合杂合无义突变导致的严重表型：病例报告及文献综述中的基因型-表型相关性分析
期刊:International Journal of Genomics
影响因子:1.9
doi:10.1155/ijog/2680052
Klangjorhor, Jeerawan; Pomrop, Mallika; Thongkumkoon, Patcharawadee; Moonsan, Nonthanan; Khiaomai, Ratchadaporn; Pasena, Arnat; Suksakit, Pathacha; Pruksachatkun, Chulabhorn; Tengsujaritkul, Maliwan
