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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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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

B Chabrol1, K Martens, S Meulemans

  • 1Reference Center for inborn metabolic disorders, CHU de Timone, Marseille, France.

Journal of Medical Genetics
|February 1, 2008
PubMed
Abstract

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