Microcephaly in an Afro-Caribbean individual with an apparent de novo variant in TUBG1

被引:0
|
作者
Idries, Mohamed [1 ]
Donald, Tyhiesia [2 ]
Bhoj, Elizabeth [3 ]
Timms, Andrew [4 ]
Mirzaa, Ghayda [4 ]
Sobering, Andrew [1 ]
机构
[1] St Georges Univ, Sch Med, Dept Biochem, St Georges, Grenada
[2] Grenada Gen Hosp, Pediat Ward, St Georges, Grenada
[3] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
[4] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
eP231
引用
收藏
页码:S147 / S148
页数:2
相关论文
共 50 条
  • [1] A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual
    Maj, Mary
    Taylor, Christie L.
    Landau, Kevin
    Toriello, Helga, V
    Li, Dong
    Bhoj, Elizabeth J.
    Hakonarson, Hakon
    Nelson, Beverly
    Gluschitz, Sarah
    Walker, Ruth H.
    Sobering, Andrew K.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (01):
  • [2] Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case
    Srivastava, Preeti
    Swaroop, Shikha
    Diwakar, Kumar
    Jaiswal, Abhishek
    Singh, Monika
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (06)
  • [3] A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria
    Thulasirajah, Salini
    Wang, Xueqi
    Sell, Erick
    Davila, Jorge
    Dyment, David A.
    Kernohan, Kristin D.
    GENES, 2023, 14 (01)
  • [4] A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly
    Ope, Omotayo
    Bhoj, Elizabeth J.
    Nelson, Beverly
    Li, Dong
    Hakonarson, Hakon
    Sobering, Andrew K.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (08) : 1877 - 1880
  • [5] Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant
    Wei, Heming
    Krishnappa, Janardhan
    Lin, Grace
    Kavalloor, Nirmal
    Lim, Jiin Ying
    Goh, Chew-Yin Jasmine
    Jamuar, Saumya Shekhar
    Thomas, Terrence
    Tan, Ene Choo
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (03) : 576 - 578
  • [6] "Deliver de Letter": "Please Mr. Postman," The Marvelettes, and the Afro-Caribbean Imaginary
    Wald, Gayle
    JOURNAL OF POPULAR MUSIC STUDIES, 2012, 24 (03) : 325 - 332
  • [7] Association of HLA-DRB1*and keloid disease in an Afro-Caribbean population
    Brown, J. J.
    Ollier, W. E. R.
    Arscott, G.
    Bayat, A.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2010, 35 (03) : 305 - 310
  • [8] Trends in Partnership Among Afro-Caribbean Women: Generations and Destinations Compared [1]
    Model, Suzanne
    JOURNAL OF COMPARATIVE FAMILY STUDIES, 2022, 53 (04) : 452 - 478
  • [9] High coverage NGS of mtDNA proofs apparent de novo variant to be in fact not de novo
    Ahting, U.
    Lorenz-Depireux, B.
    Berutti, R.
    Radivojkov-Blagojevic, M.
    Radelfahr, F.
    Stendel, C.
    Walther, J. U.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 295 - 295
  • [10] MANAGEMENT OF 1ST EPISODE PSYCHOTIC ILLNESS IN AFRO-CARIBBEAN PATIENTS
    CHEN, EYH
    HARRISON, G
    STANDEN, PJ
    BRITISH JOURNAL OF PSYCHIATRY, 1991, 158 : 517 - 522