De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review

Authors

  • Alexandra Jolley,

    1. Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Mark Corbett,

    1. School of Paediatrics and Reproductive Health, The University of Adelaide, North Adelaide, South Australia, Australia
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  • Lesley McGregor,

    1. South Australian Clinical Genetics Service, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Wendy Waters,

    1. Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Susan Brown,

    1. Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Jillian Nicholl,

    1. Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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  • Sui Yu

    Corresponding author
    1. School of Paediatrics and Reproductive Health, The University of Adelaide, North Adelaide, South Australia, Australia
    • Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia
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Correspondence to:

Sui Yu, M.B.B.S., Ph.D., F.R.C.P.A., Genetic Medicine, Level 9 Rieger Building, 72 King William Road, North Adelaide, South Australia 5006, Australia. E-mail: sui.yu@health.sa.gov.au

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