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
  • [1] New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
    Gharesouran, Jalal
    Hosseinzadeh, Hassan
    Ghafouri-Fard, Soudeh
    Moghadam, Yalda Jabbari
    Heris, Javad Ahmadian
    Jafari-Rouhi, Amir Hossein
    Taheri, Mohammad
    Rezazadeh, Maryam
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [2] FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
    Tekmenuray-Unal, Aysel
    Durmaz, Ceren Damla
    MOLECULAR SYNDROMOLOGY, 2023, 14 (01) : 80 - 87
  • [3] Genetic heterogeneity of cutis laxa:: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene
    Markova, D
    Zou, YQ
    Ringpfeil, F
    Sasaki, T
    Kostka, G
    Timpl, R
    Uitto, J
    Chu, ML
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (04) : 998 - 1004
  • [4] CUTIS LAXA - AUTOSOMAL DOMINANT INHERITANCE IN 5 GENERATIONS
    DAMKIER, A
    BRANDRUP, F
    STARKLINT, H
    CLINICAL GENETICS, 1991, 39 (05) : 321 - 329
  • [5] Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
    Tekedereli, Ibrahim
    Demiral, Emine
    Gokce, Ismail K.
    Esener, Zeynep
    Camtosun, Emine
    Akinci, Aysehan
    CLINICAL DYSMORPHOLOGY, 2019, 28 (02) : 63 - 65
  • [6] Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
    Loeys, B
    Van Maldergem, L
    Mortier, G
    Coucke, P
    Gerniers, S
    Naeyaert, JM
    De Paepe, A
    HUMAN MOLECULAR GENETICS, 2002, 11 (18) : 2113 - 2118
  • [7] Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
    Loeys, B
    Van Maldergem, L
    Mortier, G
    Coucke, P
    Gerniers, S
    Naeyaert, JM
    De Paepe, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 210 - 210
  • [8] The complexity of elastic fibre biogenesis in the skin a perspective to the clinical heterogeneity of cutis laxa
    Uitto, Jouni
    Li, Qiaoli
    Urban, Zsolt
    EXPERIMENTAL DERMATOLOGY, 2013, 22 (02) : 88 - 92
  • [9] Cutis Laxa with Pulmonary Emphysema, Conjunctivochalasis, Nasolacrimal Duct Obstruction, Abnormal Hair, and a Novel FBLN5 Mutation
    Kantaputra, Piranit Nik
    Kaewgahya, Massupa
    Wiwatwongwana, Atchareeya
    Wiwatwongwana, Damrong
    Sittiwangkul, Rekwan
    Iamaroon, Anak
    Dejkhamron, Prapai
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (09) : 2370 - 2377
  • [10] Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa
    Lotery, Andrew J.
    Baas, Dominique
    Ridley, Caroline
    Jones, Richard P. O.
    Klaver, Caroline C. W.
    Stone, Edwin
    Nakamura, Tomoyuki
    Luff, Andrew
    Griffiths, Helen
    Wang, Tao
    Bergen, Arthur A. B.
    Trump, Dorothy
    HUMAN MUTATION, 2006, 27 (06) : 568 - 574
1234