Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome

被引：12
作者：
Sousa, Sergio B. [1 ,2 ]
Lambot-Juhan, Karen [3 ]
Rio, Marlene [1 ]
Baujat, Genevieve [1 ]
Topouchian, Vicken [4 ]
Hanna, Nadine [5 ]
Le Merrer, Martine [1 ]
Brunelle, Francis [3 ]
Munnich, Arnold [1 ]
Boileau, Catherine [1 ,5 ]
Cormier-Daire, Valerie [1 ]
机构：
[1] Univ Paris 05, AP HP, Dept Med Genet, Hop Necker Enfants Malad,INSERM U781, Paris, France
[2] Hosp Pediat Coimbra, Serv Genet Med, Coimbra, Portugal
[3] Hop Necker Enfants Malad, Serv Radiol Pediat, Paris, France
[4] Hop Necker Enfants Malad, Serv Chirurg Orthoped Pediat, Paris, France
[5] Univ Versailles SQY, Serv Biochim & Genet Mol, Hop Ambroise Pare, AP HP, Boulogne, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 05期
关键词：
MARFAN-SYNDROME; BETA RECEPTOR; MUTATIONS; TGFBR2; DISORDERS; GENES;
D O I：
10.1002/ajmg.a.33813
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1178 / 1183
页数：6
相关论文
共 50 条
  • [41] 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)
  • [42] 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
  • [43] Loeys-Dietz syndrome and pregnancy: The first ten years
    Frise, Charlotte J.
    Pitcher, Alex
    Mackillop, Lucy
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2017, 226 : 21 - 25
  • [44] Successful Heart Transplantation in a Patient With Loeys-Dietz Syndrome
    Feroe, Aliya G.
    Fiedler, Amy G.
    D'Alessandro, David A.
    ANNALS OF THORACIC SURGERY, 2019, 107 (06) : E378 - E379
  • [45] Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1
    Rodrigues, V. J.
    Elsayed, S.
    Loeys, B. L.
    Dietz, H. C.
    Yousem, D. M.
    AMERICAN JOURNAL OF NEURORADIOLOGY, 2009, 30 (08) : 1614 - 1619
  • [46] Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results
    Patel, Nishant D.
    Crawford, Todd
    Magruder, J. Trent
    Alejo, Diane E.
    Hibino, Narutoshi
    Black, James
    Dietz, Harry C.
    Vricella, Luca A.
    Cameron, Duke E.
    JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 2017, 153 (02) : 406 - 412
  • [47] Loeys-Dietz syndrome with bilateral radial head dislocations: a case report
    Rustagi, Tarush
    Agashe, Mandar V.
    Dhamele, Jaideep
    Aroojis, Alaric J.
    Mehta, Rujuta
    JOURNAL OF ORTHOPAEDIC SURGERY, 2013, 21 (02) : 262 - 265
  • [48] Magnetic resonance imaging findings in Loeys-Dietz syndrome
    Valverde, Israel
    Simpson, John
    Beerbaum, Philipp
    CARDIOLOGY IN THE YOUNG, 2010, 20 (02) : 210 - 213
  • [49] Clipping of a Cerebral Aneurysm in a Patient With Loeys-Dietz Syndrome: Case Report
    Hughes, Betsy D.
    Powers, Ciaran J.
    Zomorodi, Ali R.
    NEUROSURGERY, 2011, 69 (03) : E752 - E755
  • [50] Valve-Sparing Aortic Root Replacement in Loeys-Dietz Syndrome
    Patel, Nishant D.
    Arnaoutakis, George J.
    George, Timothy J.
    Allen, Jeremiah G.
    Alejo, Diane E.
    Dietz, Harry C.
    Cameron, Duke E.
    Vricella, Luca A.
    ANNALS OF THORACIC SURGERY, 2011, 92 (02) : 556 - 561
12345