关键词: CRYBB2 CRYBB3 DNA copy number variations RAB3GAP1 Warburg micro syndrome high-throughput nucleotide sequencing prenatal ultrasonography
Mesh : Abnormalities, Multiple / diagnosis genetics physiopathology Aborted Fetus / physiopathology Cataract / congenital diagnosis genetics physiopathology Cornea / abnormalities physiopathology DNA Copy Number Variations / genetics Exons / genetics Female Humans Hypogonadism / diagnosis genetics physiopathology Infant Infant, Newborn Intellectual Disability / diagnosis genetics physiopathology Male Microcephaly / diagnosis genetics physiopathology Mutation Optic Atrophy / diagnosis genetics physiopathology Pedigree Pregnancy Sequence Analysis, DNA Ultrasonography, Prenatal beta-Crystallin B Chain / genetics rab3 GTP-Binding Proteins / genetics
来 源:
DOI:10.1002/ajmg.a.37685
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