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Updated: May 26, 2025

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
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Published on: March 6, 2019

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与PAK2致病变体相关的产前表型:双侧多流作为警告信号

Louis Domenach1, Caroline Rooryck2,3, Marine Legendre2

  • 1Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, F-33000, France. louis.domenach@chu-bordeaux.fr.

BMC medical genomics
|February 25, 2025
PubMed
概括

诺布洛克综合征2是一种罕见的遗传性疾病,可能会导致由于PAK2基因变异导致严重的胎儿外泄. 这一发现凸显了膜溢出作为这种综合征的关键产前指标.

关键词:
胎儿的胸腔溢出 胎儿的胸腔溢出这是一个 Knobloch.在PAK2中使用PAK2.

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