Video Experimental Relacionado

Updated: Sep 10, 2025

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
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Visión general y expansión de la lisencefalia asociada a CEP85L

Isabell Schumann1, Rami Abou Jamra2, Robin-Tobias Jauss2

  • 1Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Centre for Medical Genetics, Department of Medical Genetics, University of Münster, Münster, Germany.

European journal of medical genetics
|August 24, 2025
PubMed
Resumen

Las variantes genéticas en CEP85L causan lisencefalia, un trastorno del desarrollo neurológico. Este estudio aclara las correlaciones genotipo-fenotipo, ayudando a los diagnósticos genéticos y el asesoramiento para esta condición.

Palabras clave:
En el caso de la CEP85LSecuenciación del exomaRetraso en el desarrollo neurológicoEnfermedad en el cerebro

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