Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients

被引:0
|
作者
Hang Yang
Yanyun Ma
Mingyao Luo
Guoyan Zhu
Yinhui Zhang
Binbin Li
Chang Shu
Zhou Zhou
机构
[1] Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center
[2] Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Cardiovascular Disease, Center of Vascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases
来源
Orphanet Journal of Rare Diseases | / 15卷
关键词
Loeys-Dietz syndrome; Genetic testing; Phenotypic spectrum;
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 50 条
  • [31] Arterial tortuosity in pediatric Loeys-Dietz syndrome patients
    Brunet-Garcia, Laia
    Prabaharan, Pirasuja
    Bruyndonckx, Luc
    Field, Ella
    DArco, Felice
    Capelli, Claudio
    Cervi, Elena
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (03)
  • [32] Arterial Tortuosity and Cardiovascular Outcomes in Marfan Syndrome and Loeys-Dietz Syndrome
    Morris, Shaine A.
    Dodd, Nicholas A.
    Oda, Seitaro
    Kancherla, Kalyan
    Asch, Federico M.
    Challman, Melissa
    Andreas, Shelley S.
    Payne, William
    Preiss, Liliana
    LeMaire, Scott
    Devereux, Richard B.
    Pyeritz, Reed E.
    Holmes, Kathryn W.
    Roman, Mary J.
    Lacro, Ronald V.
    Shohet, Ralph V.
    Krishnamurthy, Rajesh
    Pedroza, Claudia
    Eagle, Kim
    Milewicz, Dianna M.
    CIRCULATION, 2016, 134
  • [33] Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings
    Kalra, Vivek B.
    Gilbert, John W.
    Malhotra, Ajay
    PEDIATRIC RADIOLOGY, 2011, 41 (12) : 1495 - 1504
  • [34] The Loeys-Dietz syndrome: an update for the clinician
    Van Hemelrijk, Christine
    Renard, Marjolijn
    Loeys, Bart
    CURRENT OPINION IN CARDIOLOGY, 2010, 25 (06) : 546 - 551
  • [35] Loeys-Dietz Syndrome and Ischemic Stroke
    Nahhas, Michael
    Kohli, Disha
    Banerjee, Chirantan
    NEUROLOGY, 2020, 94 (15)
  • [36] Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome
    Biggin, Andrew
    Enriquez, Annabelle
    Wong, Melanie
    Bennetts, Bruce
    Lau, Chiyan
    Chan, Cheng Yee
    Pinner, Jason
    Adelstein, Stephen
    Ades, Lesley C.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 234 - 236
  • [37] Massive Hemoptysis in Loeys-Dietz Syndrome
    Bennett, Christopher L.
    Aziz, Hamza
    Sparks, Elizabeth
    Shah, Trushil
    Yoder, Mark
    MacCarrick, Gretchen
    Dietz, Harry C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (03) : 725 - 727
  • [38] Vascular Involvement in Loeys-Dietz Syndrome
    Jud, Philipp
    Hafner, Franz
    MAYO CLINIC PROCEEDINGS, 2019, 94 (06) : 1117 - 1119
  • [39] Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
    Krohg-Sorensen, Kirsten
    Lingaas, Per Snorre
    Lundblad, Runar
    Seem, Egil
    Paus, Benedicte
    Geiran, Odd R.
    EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY, 2017, 52 (06) : 1125 - 1131
  • [40] Ocular findings in Loeys-Dietz syndrome
    Busch, Catharina
    Voitl, Robert
    Goergen, Barbara
    Zemojtel, Tomasz
    Gehle, Petra
    Salchow, Daniel J.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2018, 102 (08) : 1036 - 1040