在一个伴有囊性透明瘤和先天性心脏缺陷的胎儿中检测到 PTPN11 基因中的一个新发杂合致病变体(c.1505 C > T, p.S502L)。

IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
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Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects
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来源期刊
CiteScore
3.60
自引率
23.80%
发文量
207
审稿时长
4-8 weeks
期刊介绍: Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.
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