Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations

Objectives: We present prenatal diagnosis of Geleophysic dysplasia (GD) at 22 weeks gestation with prenatal ultrasound findings, molecular genetic analysis and postmortem examination. Case report: A 27-year-old primigravida was referred at 22 + 4 weeks gestation for detailed anomaly scanning due to...

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Asıl Yazarlar: Yu-Ting Jiang, Shao-Bin Lin, Cai-Xin Huang, Liu Du, Hong-Ning Xie
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2025-05-01
Seri Bilgileri:Taiwanese Journal of Obstetrics & Gynecology
Konular:
ADAMTSL2
Geleophysic dysplasia
Obstetric ultrasound
Prenatal diagnosis
Online Erişim:http://www.sciencedirect.com/science/article/pii/S1028455925000889
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