Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report

Abstract Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be screened during the fetal period by prenat...

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Main Authors: Hua Xie (Author), Yulin Chen (Author), Fei Xiong (Author), Jinrong Li (Author), Fan Yang (Author)
Format: Book
Published: BMC, 2023-03-01T00:00:00Z.
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3rd Floor Main Library

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