Video Experimental Relacionado

Updated: Sep 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Leucodistrofia hipomyelinizante relacionada con SHQ1: un informe de caso con características de imagen y una variante

Abdullah AlBathi1, Abdullah AlMutairi1, Ahmed AlDraihem2

  • 1Department of Radiology, King Fahad Medical City, Riyadh, Saudi Arabia.

Radiology case reports
|August 21, 2025
PubMed
Resumen

La leucodistrofia hipomyelinizante relacionada con SHQ1 es un trastorno genético raro que afecta el desarrollo de la mielina. Este informe detalla un segundo caso de una variante homocigótica de SHQ1, destacando la necesidad de imágenes avanzadas en el diagnóstico de leucodistrofias.

Palabras clave:
Leucodistrofia hipomyelinizanteNeurogenéticaNeuroradiologíaNeuroimágenes pediátricasSHQ1 y SHQ2

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