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在两个连续怀孕中,在胎儿前脑形的情况下,对一种致病性母性FGFR1变异的产前鉴定

Ludovico Graziani1, Sara Nuovo2, Elisa Pisaneschi3

  • 1Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|April 28, 2024
PubMed
概括

整体大脑发育 (HPE) 是一种常见的前脑发育障碍. 一种复发的FGFR1变异,从无症状母亲遗传,在两个怀孕中引起HPE,突出了基因查的必要性.

关键词:
一个FGFR1.产前外基因组测序 产前外基因组测序一个全透脑性脑病 (holoprosencephaly).磁共振成像技术的使用复发风险 复发风险 复发风险

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