A diagnosis of Vascular EDS in childhood: clinical and molecular features of 60 individuals

被引：0
|
作者：
Wilkinson, Niamh [1 ,2 ]
Cervi, Elena [3 ]
Wagner, Bart [4 ]
Von-Klemperer, Katherine [5 ]
Andrew, Toby [2 ]
Ghali, Neeti [1 ,2 ]
Van Dijk, Fleur [1 ,2 ]
机构：
[1] London North West Univ Healthcare NHS Trust, Natl EDS Serv, London, England
[2] Imperial Coll London, Sect Genet & Genom, Dept Metab Digest & Reprod, London, England
[3] Great Ormond St Hosp Sick Children, Ctr Inherited Cardiovasc Dis, London, England
[4] Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Elect Microscopy Sect, Dept Histopathol, Sheffield, S Yorkshire, England
[5] Barts Heart Ctr, Barts Hlth NHS Trust, Adult Congenital Heart Dis, London, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P05.028.D
引用
收藏
页码：404 / 404
页数：1
相关论文
共 50 条
  • [1] Vascular EDS in adulthood: an overview of clinical and molecular features of 151 individuals
    Wilkinson, Niamh
    Von-Klemperer, Katherine
    Cervi, Elena
    Baker, Duncan
    Angwin, Chloe
    Harris, Juliette
    Pope, Michael
    Sehra, Ravinder
    Ghali, Neeti
    Van Dijk, Fleur
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 404 - 404
  • [2] A diagnosis of vascular ehlers-danlos syndrome in childhood: clinical and molecular features of 63 individuals
    Wilkinson, N.
    Cervi, E.
    Wagner, B.
    Von Klemperer, K.
    Andrew, T.
    Ghali, N.
    Van Dijk, F.
    EUROPEAN HEART JOURNAL, 2024, 45
  • [3] A diagnosis of vascular ehlers-danlos syndrome in childhood: clinical and molecular features of 63 individuals
    Wilkinson, N.
    Cervi, E.
    Wagner, B.
    Von Klemperer, K.
    Andrew, T.
    Ghali, N.
    Van Dijk, F.
    EUROPEAN HEART JOURNAL, 2024, 45
  • [4] Contact Dermatitis in Childhood - Clinical Features, Diagnosis and Differencial Diagnosis
    Hoeger, P.
    ALLERGOLOGIE, 2009, 32 (12) : 479 - 479
  • [5] Clinical relevance of molecular diagnosis in childhood rhabdomyosarcoma
    Tobar, A
    Avigad, S
    Zoldan, M
    Mor, C
    Goshen, Y
    Zaizov, R
    DIAGNOSTIC MOLECULAR PATHOLOGY, 2000, 9 (01) : 9 - 13
  • [6] Alopecia and hypotrichosis in childhood. Clinical features and diagnosis
    Betz, R. C.
    HAUTARZT, 2014, 65 (06): : 520 - 526
  • [7] Clinical features of molecular pathology of solid tumours in childhood
    Messahel, B
    Hing, S
    Nash, R
    Jeffrey, I
    Pritchard-Jones, K
    LANCET ONCOLOGY, 2005, 6 (06): : 421 - 430
  • [8] Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias
    Hill, M.
    Dolan, G.
    HAEMOPHILIA, 2008, 14 (05) : 889 - 897
  • [9] PATHOLOGICAL AND MOLECULAR ASPECTS OF DIAGNOSIS AND CLINICAL FEATURES
    Majewska, Hanna
    Biernat, Wojciech
    POLISH JOURNAL OF PATHOLOGY, 2010, 61 (03) : 117 - 123
  • [10] Clinical Features, Diagnosis, and Pathogenesis of Chronic Bullous Disease of Childhood
    Mintz, Emily M.
    Morel, Kimberly D.
    DERMATOLOGIC CLINICS, 2011, 29 (03) : 459 - +
12345