A de novo ATXN2L variant in a child with developmental delay and macrocephaly

被引：2
|
作者：
Alzahrani, Fatema [1 ]
Albatti, Turki H. [2 ]
Alkuraya, Fowzan S. [1 ,3 ]
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
[2] Abdullatif Al Fozan Ctr Autism, Al Khobar, Saudi Arabia
[3] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 03期
关键词：
ATAXIN-2;
D O I：
10.1002/ajmg.a.62007
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：949 / 951
页数：3
相关论文
共 50 条
  • [41] De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay
    Ying Yue
    Baerbel Grossmann
    Susan E. Holder
    Thomas Haaf
    Human Genetics, 2005, 117 : 1 - 8
  • [42] The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
    Park, Soyoung
    Jeon, Byung Ryul
    Lee, You Kyoung
    Ki, Chang-Seok
    Jang, Mi-Ae
    ANNALS OF LABORATORY MEDICINE, 2020, 40 (05) : 435 - 437
  • [43] De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay
    Yue, Y
    Grossmann, B
    Holder, SE
    Haaf, T
    HUMAN GENETICS, 2005, 117 (01) : 1 - 8
  • [44] The second ''de novo" activating glucokinase (V452L) mutation in a patient with developmental delay
    Meissner, Thomas
    Cobo-Vuilleumier, Nadia
    Maringa, M.
    Rodriguez-Bada, Pablo
    Garcia-Gimeno, Maria A.
    Castro-Santiago, Maria J.
    Aledo, Juan C.
    De Fonseca, Fernando Rodriguez
    Sanz, J. Weber Pascual
    Cuesta-Munoz, Antonio L.
    DIABETES, 2008, 57 : A374 - A375
  • [45] The second "de novo" activating glucokinase mutation (V452L) in a patient with developmental delay
    Cuesta-Munoz, A. L.
    Meissner, T.
    Cobo-Vuilleumier, N.
    Maringa, M.
    Garcia-Gimeno, M. A.
    Castro-Santiago, M. J.
    Aledo, J. C.
    Weber, J.
    Sanz, P.
    DIABETOLOGIA, 2008, 51 : S123 - S123
  • [46] A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
    Natalie C. Lippa
    Subit Barua
    Vimla Aggarwal
    Elaine Pereira
    Jennifer M. Bain
    BMC Neurology, 21
  • [47] Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
    Fielder, Sara M.
    Rosenfeld, Jill A.
    Burrage, Lindsay C.
    Emrick, Lisa
    Lalani, Seema
    Attali, Ruben
    Bembenek, Joshua N.
    Hieu Hoang
    Baldridge, Dustin
    Silverman, Gary A.
    Schedl, Tim
    Pak, Stephen C.
    MOLECULAR GENETICS AND METABOLISM, 2022, 136 (01) : 65 - 73
  • [48] Syndromic intellectual disability and developmental delay caused by novel de novo truncating variant in AHDC1 gene
    Diaz-Ordonez, L.
    Ramirez-Montano, D.
    Cruz, S.
    Pachajoa, H.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 954 - 955
  • [49] A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
    Lippa, Natalie C.
    Barua, Subit
    Aggarwal, Vimla
    Pereira, Elaine
    Bain, Jennifer M.
    BMC NEUROLOGY, 2021, 21 (01)
  • [50] Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay
    Tidwell, Timothy
    Deshotel, Malia
    Palumbos, Janice
    Miller, Chris
    Bayrak-Toydemir, Pinar
    Carey, John C.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2020, 6 (06):
12345