دورية أكاديمية
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
العنوان: | Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report |
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المؤلفون: | Yang, Jun-LinAff1, Aff2, Gu, HengAff1, Aff2, Yuan, Zhuang-ZhuangAff1, Aff2, Aff3, Xie, Xiao-HuiAff1, Aff2, Yang, Yi-FengAff1, Aff2, Tan, Zhi-PingAff1, Aff2, IDs12920024019076_cor6 |
المصدر: | BMC Medical Genomics. 17(1) |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 17558794 |
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DOI: | 10.1186/s12920-024-01907-6 |