NEW INTELLECTUAL DISABILITY SYNDROME IDENTIFIED WDR26 haploinsufficiency is rare but could provide explanations to some patients

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不详
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 10期
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10.1002/ajmg.a.38483
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Q3 [遗传学];
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071007 ; 090102 ;
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页码：2574 / 2575
页数：2
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  • [1] WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features
    Deardorff, M. A.
    Skraban, C. M.
    Wells, C. F.
    Markose, P.
    Cho, M. T.
    Nesbitt, A. I.
    Au, P. Y. B.
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    Bird, L. M.
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    Gibson, K. M.
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    Markie, D. M.
    Owens, M. M.
    Payne, K.
    Person, R.
    Stocco, A.
    Turner, C. L. S.
    Verbeek, N. E.
    Walsh, L. E.
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    Wilkens, A. B.
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    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 510 - 510
  • [2] WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
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    Begtrup, Amber
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    de Brouwer, Arjan P. M.
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    Kleefstra, Tjitske
    Robertson, Stephen P.
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    Deardorff, Matthew A.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (01) : 139 - 148
  • [3] Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability
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    [J]. GENES, 2022, 13 (05)
  • [4] Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly
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    [J]. FEBS LETTERS, 2024, 598 (09) : 978 - 994
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