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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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ROHHAD syndrome spectrum in an adult: a possible new variant
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
Abstract:
This case report describes for the first time the evolution of a mature patient with all the diagnostic criteria for ROHHAD syndrome. It shows a rare case of central alveolar hypoventilation with hypothalamic impairment, dysautonomia and rapid weight gain. https://bit.ly/49AN3Vv.
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