包含 SETBP1 的 18q12.3 遗传性微缺失的产前诊断和分子细胞遗传学表征。
关键词: Chromosomal microarray analysis SET binding protein 1 autosomal dominant 29 chromosomal microdeletion chromosomal microduplication intellectual developmental disorder prenatal diagnosis Chromosomal microarray analysis SET binding protein 1 autosomal dominant 29 chromosomal microdeletion chromosomal microduplication intellectual developmental disorder prenatal diagnosis Chromosomal microarray analysis SET binding protein 1 autosomal dominant 29 chromosomal microdeletion chromosomal microduplication intellectual developmental disorder prenatal diagnosis
Mesh : Carrier Proteins / genetics Cytogenetic Analysis Female Hand Deformities, Congenital / genetics Humans Nails, Malformed / genetics Nuclear Proteins / genetics Pregnancy Prenatal Diagnosis
来 源: DOI:10.1177/03000605221121955