关键词: Antenatal diagnosis CHARGE syndrome CHD7 Fetal dysmorphic signs
Mesh : CHARGE Syndrome / diagnosis diagnostic imaging genetics DNA Helicases / genetics DNA-Binding Proteins / genetics Female Fetus / abnormalities diagnostic imaging Genetic Testing / methods standards Humans Infant, Newborn Karyotyping / methods standards Magnetic Resonance Imaging / methods standards Male Sequence Analysis, DNA / methods standards Tomography, X-Ray Computed / methods standards Ultrasonography, Prenatal / methods standards
来 源:
DOI:10.1016/j.ejmg.2021.104189
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