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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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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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Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

Karen M Lower1, Gillian Turner, Bronwyn A Kerr

  • 1Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

Nature Genetics
|November 5, 2002
PubMed

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