New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa

被引：0
|
作者：
Jalal Gharesouran
Hassan Hosseinzadeh
Soudeh Ghafouri-Fard
Yalda Jabbari Moghadam
Javad Ahmadian Heris
Amir Hossein Jafari-Rouhi
Mohammad Taheri
Maryam Rezazadeh
机构：
[1] GMG Center,Molecular Genetics Division
[2] Tabriz University of Medical Sciences,Division of Medical Genetics, Tabriz Children’s Hospital
[3] Shahid Beheshti University of Medical Sciences,Department of Medical Genetics
[4] Tabriz University of Medical Sciences,Department of Otorhinolaryngology, School of Medicine, Sina Medical Research and Training Hospital, Children Medical Research and Training Hospital
[5] Tabriz University of Medical Sciences,Department of Pediatrics, School of Medicine, Children Medical Research and Training Hospital
[6] Tabriz University of Medical Sciences,Tuberculosis and Lung Disease Research Center
[7] Shahid Beheshti University of Medical Sciences,Urology and Nephrology Research Center
[8] Tabriz University of Medical Sciences,Department of Medical Genetics
来源：
Orphanet Journal of Rare Diseases | / 16卷
关键词：
Cutis laxa; FBLN5; Fibulin-5; WES; Autosomal recessive;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 33 条
  • [11] Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
    Vogt, Guido
    El Choubassi, Naji
    Herczegfalvi, Agnes
    Koelbel, Heike
    Lekaj, Anja
    Schara, Ulrike
    Holtgrewe, Manuel
    Krause, Sabine
    Horvath, Rita
    Schuelke, Markus
    Hubner, Christoph
    Mundlos, Stefan
    Roos, Andreas
    Lochmueller, Hanns
    Karcagi, Veronika
    Kornak, Uwe
    Fischer-Zirnsak, Bjoern
    JOURNAL OF INHERITED METABOLIC DISEASE, 2021, 44 (04) : 972 - 986
  • [12] Structural Effects of Fibulin 5 Missense Mutations Associated with Age-Related Macular Degeneration and Cutis Laxa
    Jones, Richard P. O.
    Ridley, Caroline
    Jowitt, Thomas A.
    Wang, Ming-Chuan
    Howard, Marjorie
    Bobola, Nicoletta
    Wang, Tao
    Bishop, Paul N.
    Kielty, Cay M.
    Baldock, Clair
    Lotery, Andrew J.
    Trump, Dorothy
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (05) : 2356 - 2362
  • [13] Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC
    Rad, Elaheh Malakan
    Zeinaloo, Ali-Akbar
    Kariminejad, Ariana
    Kornak, Uwe
    Fischer-Zirnsak, Bjorn
    Mohamadpour, Masoud
    IRANIAN JOURNAL OF PEDIATRICS, 2016, 26 (06)
  • [14] New Insight to the Pathogenetic Mechanism of Kawasaki Disease (KD): the Relationship between Clinical Diversity and Genetic Heterogeneity
    Yoo, Byung Won
    KOREAN CIRCULATION JOURNAL, 2019, 49 (01) : 109 - 112
  • [15] ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
    Beyens, Aude
    Moreno-Artero, Ester
    Bodemer, Christine
    Cox, Helen
    Gezdirici, Alper
    Gulec, Elif Yilmaz
    Kahloul, Najoua
    Van Kien, Philippe Khau
    Ogur, Gonul
    Harroche, Annie
    Vasse, Marc
    Salhi, Aicha
    Symoens, Sofie
    Hadj-Rabia, Smail
    Callewaert, Bert
    EXPERIMENTAL DERMATOLOGY, 2019, 28 (10) : 1142 - 1145
  • [16] OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology
    de la Barca, Juan Manuel Chao
    Prunier-Mirebeau, Delphine
    Amati-Bonneau, Patrizia
    Ferre, Marc
    Sarzi, Emmanuelle
    Bris, Celine
    Leruez, Stephanie
    Chevrollier, Arnaud
    Desquiret-Dumas, Valerie
    Gueguen, Naig
    Verny, Christophe
    Hamel, Christian
    Milea, Dan
    Procaccio, Vincent
    Bonneau, Dominique
    Lenaers, Guy
    Reynier, Pascal
    NEUROBIOLOGY OF DISEASE, 2016, 90 : 20 - 26
  • [17] De Barsy Syndrome: A Genetically Heterogeneous Autosomal Recessive Cutis Laxa Syndrome Related to P5CS and PYCR1 Dysfunction
    Zampatti, Stefania
    Castori, Marco
    Fischer, Bjoern
    Ferrari, Paola
    Garavelli, Livia
    Dionisi-Vici, Carlo
    Agolini, Emanuele
    Wischmeijer, Anita
    Morava, Eva
    Novelli, Giuseppe
    Haeberle, Johannes
    Kornak, Uwe
    Brancati, Francesco
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 927 - 931
  • [18] HEREDITARY NEPHRITIS - CLINICAL SPECTRUM AND MODE OF INHERITANCE IN 5 NEW KINDREDS
    CHAZAN, JA
    ZACKS, J
    COHEN, JJ
    GARELLA, S
    AMERICAN JOURNAL OF MEDICINE, 1971, 50 (06): : 764 - +
  • [19] Glioma-related edema: new insight into molecular mechanisms and their clinical implications
    Lin, Zhi-Xiong
    CHINESE JOURNAL OF CANCER, 2013, 32 (01) : 49 - 52
  • [20] Glioma-related edema:new insight into molecular mechanisms and their clinical implications
    Zhi-Xiong Lin
    Chinese Journal of Cancer, 2013, 32 (01) : 49 - 52
1234