An atypical presentation of Immunodeficiency Centromeric Instability Facial anomalies syndrome

被引：0
|
作者：
Mehawej, C. [1 ]
Khalife, H. [2 ]
Dbaibo, G. [3 ]
Wakim, R. [4 ]
Farra, C. [1 ]
机构：
[1] St Joseph Univ, Fac Med, Unite Genet Med, Beirut, Lebanon
[2] Al Zahraa Hosp Univ Med Ctr, Beirut, Lebanon
[3] Amer Univ Beirut, Dept Pediat, Beirut, Lebanon
[4] Amer Univ Beirut, Beirut, Lebanon
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P07.50.A
引用
收藏
页码：315 / 316
页数：2
相关论文
共 50 条
  • [1] Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
    Melanie Ehrlich
    Kelly Jackson
    Corry Weemaes
    Orphanet Journal of Rare Diseases, 1
  • [2] Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
    Ehrlich, Melanie
    Jackson, Kelly
    Weemaes, Corry
    ORPHANET JOURNAL OF RARE DISEASES, 2006, 1 (1)
  • [3] DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome
    Vukic, Maja
    Daxinger, Lucia
    DNA METHYLATION, 2019, 63 (06): : 773 - 783
  • [4] MULTIBRANCHED CHROMOSOMES IN THE ICF SYNDROME - IMMUNODEFICIENCY, CENTROMERIC INSTABILITY, AND FACIAL ANOMALIES
    TURLEAU, C
    CABANIS, MO
    GIRAULT, D
    LEDEIST, F
    METTEY, R
    PUISSANT, H
    PRIEUR, M
    DEGROUCHY, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (03): : 420 - 424
  • [5] Angiosarcoma in a Patient With Immunodeficiency, Centromeric Region Instability, Facial Anomalies (ICF) Syndrome
    van den Brand, Michiel
    Flucke, Uta E.
    Bult, Peter
    Weemaes, Corry M. R.
    van Deuren, Marcel
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (03) : 622 - 625
  • [6] The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome
    Hu, Haochang
    Chen, Chujia
    Shi, Shanping
    Li, Bin
    Duan, Shiwei
    AUTOIMMUNITY, 2019, 52 (5-6) : 192 - 198
  • [7] A RARE CASE OF HELLS MUTATION CAUSING IMMUNODEFICIENCY, CENTROMERIC INSTABILITY, AND FACIAL ANOMALIES SYNDROME
    Xu, J.
    Fitch, T.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2023, 131 (05) : S141 - S142
  • [8] Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome
    Toubiana, Shir
    Velasco, Guillaume
    Chityat, Adi
    Kaindl, Angela M.
    Hershtig, Noam
    Tzur-Gilat, Aya
    Francastel, Claire
    Selig, Sara
    HUMAN MOLECULAR GENETICS, 2018, 27 (20) : 3568 - 3581
  • [9] IMMUNODEFICIENCY, CENTROMERIC HETEROCHROMATIN INSTABILITY OF CHROMOSOMES 1, 9, AND 16, AND FACIAL ANOMALIES - THE ICF SYNDROME
    MARASCHIO, P
    ZUFFARDI, O
    DALLAFIOR, T
    TIEPOLO, L
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (03) : 173 - 180
  • [10] Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
    Peter E. Thijssen
    Yuya Ito
    Giacomo Grillo
    Jun Wang
    Guillaume Velasco
    Hirohisa Nitta
    Motoko Unoki
    Minako Yoshihara
    Mikita Suyama
    Yu Sun
    Richard J. L. F. Lemmers
    Jessica C. de Greef
    Andrew Gennery
    Paolo Picco
    Barbara Kloeckener-Gruissem
    Tayfun Güngör
    Ismail Reisli
    Capucine Picard
    Kamila Kebaili
    Bertrand Roquelaure
    Tsuyako Iwai
    Ikuko Kondo
    Takeo Kubota
    Monique M. van Ostaijen-Ten Dam
    Maarten J. D. van Tol
    Corry Weemaes
    Claire Francastel
    Silvère M. van der Maarel
    Hiroyuki Sasaki
    Nature Communications, 6
12345