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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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La secuenciación del exoma entero identifica mutaciones recesivas WDR62 en malformaciones cerebrales severas

Kaya Bilgüvar1, Ali Kemal Oztürk, Angeliki Louvi

  • 1Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

Nature
|August 24, 2010
PubMed
Resumen

Las mutaciones recesivas en el dominio de repetición WD 62 (WDR62) causan malformaciones cerebrales graves, incluidas la microcefalia y la pachigiria. La secuenciación del exoma entero identificó WDR62 como un gen clave en el desarrollo de la corteza cerebral humana.

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