Concurrent of Compound Heterozygous Variant of a Novel In-Frame Deletion and the Common Hypomorphic Haplotype in TBX6 and Inherited 17q12 Microdeletion in a Fetus
BMC Pregnancy and Childbirth（2024）
关键词
Congenital scoliosis,TBX6,Novel variant,Functional study,17q12 microdeletion
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