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Updated: Jul 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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罗哈德综合征在成年人中的频谱:一种可能的新变异

Ángel Ortega-González1, Rodrigo Perea-Rozas2, Ana Martínez-García3

  • 1Department of Pulmonology, Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain.

ERJ open research
|January 23, 2024
PubMed
概括

本病例报告详细介绍了一个成熟的患者中首次记录的快速发病的肥胖症与下丘脑功能障碍,自主功能障碍和肠功能障碍 (ROHHAD) 综合征的进展. 它强调了中枢气膜低通风,下丘脑问题,失自性和快速体重增加.

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