首页> Frontiers in pediatrics> Mild features of partial <i>PAX3</i> deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.

Mild features of partial <i>PAX3</i> deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.

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第一作者： Qi,Chen

第一单位： Genetic and Prenatal Diagnosis Center, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China.;Medical Center for Obstetrics and Gynecology, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China.;Department of Ultrasound, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China.

作者： Qi,Chen ^[1] ; Lin,Shi ^[2] ; Yunpeng,Chen ^[3] ; Xinyu,Cao ^[3] ; Yan,Yang ^[3]

作者单位： Genetic and Prenatal Diagnosis Center, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China.;Medical Center for Obstetrics and Gynecology, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China.;Department of Ultrasound, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China. ^[1] Medical Center for Obstetrics and Gynecology, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China.;Department of Ultrasound, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China. ^[2] Genetic and Prenatal Diagnosis Center, Fourth Affiliated Hospital of Jiangsu University, Zhenjiang, China. ^[3]

关键词 PAX3 SNP-array analysis Waardenburg syndrome chromosomal aberration cleft vertebrae

DOI 10.3389/fped.2025.1642132

PMID 41141997

发布时间 2025-10-29

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Mild features of partial <i>PAX3</i> deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.

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Mild features of partial <i>PAX3</i> deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.

Frontiers in pediatrics

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Frontiers in pediatrics

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