دورية أكاديمية

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

التفاصيل البيبلوغرافية
العنوان: Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
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
الوصف
تدمد:17558794
DOI:10.1186/s12920-024-01907-6