Beyond the usual suspects: Autosomal recessive forms of childhood-onset thoracic aortic disease

被引:0
|
作者
D'hulst, Simon [1 ,2 ]
Muino-Mosquera, Laura [1 ,2 ]
机构
[1] Ghent Univ Hosp, Dept Pediat, Div Pediat Cardiol, C Heymanslaan 10, B-9000 Ghent, Belgium
[2] Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium
关键词
EFEMP2; fibulin4; Autosomal recessive thoracic aortic disease; Childhood-onset thoracic aortic disease; VARIANTS;
D O I
10.1016/j.ijcard.2024.132885
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:2
相关论文
共 50 条
  • [21] Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population
    Almostafa, Abeer Essa
    Al-Korashy, Maarab Mohammed
    Al-Ruwaili, Nadiah Salem
    Takroni, Saud
    Alhabdan, Mohammed
    Alqwaee, Abdullah
    Issa, Ziad
    Khouqeer, Fareed
    Brotons, Dimpna C. Albert
    Almesned, Abdulrahman
    Alhalees, Zohair
    Al-Hassnan, Zuhair Nasser
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2025, 420
  • [22] An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
    Mah-Som, Annelise Y.
    Daw, Jil
    Huynh, Diana
    Wu, Mengcheng
    Creekmore, Benjamin C.
    Burns, William
    Skinner, Steven A.
    Holla, Oystein L.
    Smeland, Marie F.
    Planes, Marc
    Uguen, Kevin
    Redon, Sylvia
    Bierhals, Tatjana
    Scholz, Tasja
    Denecke, Jonas
    Mensah, Martin A.
    Sczakiel, Henrike L.
    Tichy, Heidelis
    Verheyen, Sarah
    Blatterer, Jasmin
    Schreiner, Elisabeth
    Thies, Jenny
    Lam, Christina
    Spaeth, Christine G.
    Pena, Loren
    Ramsey, Keri
    Narayanan, Vinodh
    Seaver, Laurie H.
    Rodriguez, Diana
    Afenjar, Alexandra
    Burglen, Lydie
    Lee, Edward B.
    Chou, Tsui-Fen
    Weihl, Conrad C.
    Shinawi, Marwan S.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 110 (11) : 1959 - 1975
  • [23] MUTATIONS FOR THE AUTOSOMAL RECESSIVE AND AUTOSOMAL DOMINANT FORMS OF POLYCYSTIC KIDNEY-DISEASE ARE NOT ALLELIC
    RAMSAY, M
    REEDERS, ST
    THOMSON, PD
    MILNER, LS
    LAZAROU, L
    BARRATT, TM
    YAU, A
    LEHMANN, OJ
    JENKINS, T
    HUMAN GENETICS, 1988, 79 (01) : 73 - 75
  • [24] CHILDHOOD-ONSET AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN SIBS - CLINICAL PICTURE AND RECURRENCE RISK
    ZERRES, K
    RUDNIKSCHONEBORN, S
    DEGET, F
    JOURNAL OF MEDICAL GENETICS, 1993, 30 (07) : 583 - 588
  • [25] Childhood-onset scleroderma - Is it different from adult-onset disease?
    Vancheeswaran, R
    Black, CM
    David, J
    Hasson, N
    Harper, J
    Atherton, D
    Trivedi, P
    Woo, P
    ARTHRITIS AND RHEUMATISM, 1996, 39 (06): : 1041 - 1049
  • [26] The Circulating Methylome in Childhood-Onset Inflammatory Bowel Disease
    Noble, Alexandra
    Adams, Alex
    Nowak, Jan
    Cheng, Guo
    Nayak, Komal
    Quinn, Aisling
    Kristiansen, Mark
    Kalla, Rahul
    Ventham, Nicholas T.
    Giachero, Federica
    Jayamanne, Chamara
    Hansen, Richard
    Hold, Georgina L.
    El-Omar, Emad
    Croft, Nicholas M.
    Wilson, David
    Beattie, R. Mark
    Ashton, James J.
    Zilbauer, Matthias
    Ennis, Sarah
    Uhlig, Holm H.
    Satsangi, Jack
    JOURNAL OF CROHNS & COLITIS, 2024,
  • [27] Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease
    Fujinami, Kaoru
    Zernant, Jana
    Ozawa, Yoko
    Tsubota, Kazuo
    Robson, Anthony G.
    Holder, Graham E.
    Webster, Andrew
    Allikmets, Rando
    Michaelides, Michel
    Moore, Anthony T.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [28] Biologic Agents in the Treatment of Childhood-Onset Rheumatic Disease
    Mehta, Jay
    Beukelman, Timothy
    JOURNAL OF PEDIATRICS, 2017, 189 : 31 - 39
  • [29] Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
    Fujinami, Kaoru
    Zernant, Jana
    Chana, Ravinder K.
    Wright, Genevieve A.
    Tsunoda, Kazushige
    Ozawa, Yoko
    Tsubota, Kazuo
    Robson, Anthony G.
    Holder, Graham E.
    Allikmets, Rando
    Michaelides, Michel
    Moore, Anthony T.
    OPHTHALMOLOGY, 2015, 122 (02) : 326 - 334
  • [30] Adverse Childhood Experiences: Prevalence and Relationship to Disease in Childhood-onset Lupus
    Hendrikx, Olivia
    Fevrier, Stephanie
    Mohamed, Ibrahim
    DeCoste, Chelsea
    Moaf, Paris
    Ng, Lawrence
    Levy, Deborah
    Hiraki, Linda
    Toulany, Alene
    Knight, Andrea
    ARTHRITIS & RHEUMATOLOGY, 2023, 75 : 203 - 204