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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

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  1. Article

    Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

    This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.

    S. Riazuddin, M. Hussain, A. Razzaq, Z. Iqbal, M. Shahzad… in Molecular Psychiatry (2020)

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  2. Article

    Open Access

    Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

    Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the genetic causes of ID has recently gained momentum, iden...

    S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla… in Molecular Psychiatry (2017)

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  3. Article

    Open Access

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of f...

    H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer… in Molecular Psychiatry (2016)

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