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Updated: Feb 26, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Malformación de Dandy-Walker No Aislada: Eficacia de la Secuenciación del Exoma y Expansiones Fenotípicas

Sarah Araji1,2, Xiaonan Zhao2,3, Jill A Rosenfeld2

  • 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.

Clinical genetics
|February 25, 2026
PubMed
Resumen

La secuenciación del exoma clínico (cES) ofrece un alto rendimiento diagnóstico para casos de malformación de Dandy-Walker plus (DWM+), identificando causas genéticas que los paneles estándar no detectan. Este enfoque debe considerarse cuando los diagnósticos moleculares iniciales son esquivos.

Palabras clave:
malformación de Dandy-Walkercerebelosecuenciación del exomapaneles de genesexpansiones fenotípicas

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