頁籤選單縮合
題名 | Novel Prenatally Diagnosed Compound Heterozygous PXDN Variants in Fetal Congenital Primary Aphakia and Blepharophimosis |
---|---|
作 者 | Chou, Wei Shin; Shiao, Yu Ming; Chen, Jia Shing; Tsauer, Ju Chin; Chang, Yi Fen; Chiu, Yen-hui; Hsiao, Ching Hua; | 書刊名 | Taiwanese Journal of Obstetrics & Gynecology |
卷期 | 61:3 2022.05[民111.05] |
頁次 | 頁510-513 |
分類號 | 417.132 |
關鍵詞 | Congenital primary aphakia; Blepharophimosis; Compound heterozygous; Chromosome microarray analysis; CMA; Whole exon sequencing; WES; |
語文 | 英文(English) |