Stuve-Wiedemann syndrome: a rare clinical entity

被引:0
|
作者
Dogan, O. Akgun [1 ]
Demirkol, Y. Kendir [1 ]
Say, M. [2 ]
Akgun, T. Kizilboga [3 ,4 ]
Doganay, L. [4 ]
机构
[1] Hlth Sci Univ, Umraniye Educ & Res Hosp, Dept Pediat Genet, Istanbul, Turkey
[2] Gen Era Diagnost, Bioinformat Team, Istanbul, Turkey
[3] Istanbul Tech Univ, Dept Mol Biol & Genet, Istanbul, Turkey
[4] Hlth Sci Univ, Umraniye Educ & Res Hosp, GLAB Genom Lab, Istanbul, Turkey
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
P04.71C
引用
收藏
页码:1300 / 1301
页数:2
相关论文
共 50 条
  • [21] Anaesthesia recommendations for patients suffering from Stuve-Wiedemann syndrome
    Driessen, Jacques
    Al-Gazali, Lihadh
    Pizones, Javier
    Chakraborty, Mallinath
    ANASTHESIOLOGIE & INTENSIVMEDIZIN, 2018, 59
  • [22] Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome
    Yavuz, Ozlem Ozkale
    Yildiz, Adalet Elcin
    Aydingoz, Ustun
    CLINICAL DYSMORPHOLOGY, 2022, 31 (01) : 28 - 30
  • [23] In vitro readthrough of termination codons by gentamycin in the Stuve-Wiedemann Syndrome
    Bellais, Samuel
    Le Goff, Carine
    Dagoneau, Nathalie
    Munnich, Arnold
    Cormier-Daire, Valerie
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (01) : 130 - 132
  • [24] Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
    Cormier-Daire, V
    Superti-Furga, A
    Munnich, A
    Lyonnet, S
    Giedion, A
    Maroteaux, P
    Le Merrer, M
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 33 - 33
  • [25] Neuroparalytic keratopathy in Stuve-Wiedemann syndrome treated with tarsoconjunctival flap
    Hernandez-Garcia, Silvia
    Valdivia, Hugo Gonzalez
    Bartomeu, Joan Prat
    Molina, Jorge Sanchez
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2023, 71 (04) : 1651 - 1653
  • [26] Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report
    Gaspar, Isabel Mendes
    Saldanha, Tiago
    Cabral, Pedro
    Vilhena, M. Manuel
    Tuna, Madalena
    Costa, Cristina
    Dagoneau, Nathalie
    Daire, Valerie Cormier
    Hennekam, Raoul C. M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (13) : 1748 - 1753
  • [27] Unusual Stuve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy
    Melone, Mariarosa A. B.
    Pellegrino, Michael J.
    Nolano, Maria
    Habecker, Beth A.
    Johansson, Stefan
    Nathanson, Neil M.
    Knappskog, Per M.
    Hahn, Angelika F.
    Boman, Helge
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2014, 1 (11): : 926 - 932
  • [28] CHRONIC MUCOCUTANEOUS CANDIDIASIS DUE TO LIFR DEFICIENCY (STUVE-WIEDEMANN SYNDROME)
    Borzutzky, Arturo
    Perez-Mateluna, Guillermo
    Raso, Shantal
    Aracena, Mariana
    Vizcaya, Cecilia
    Lizama, Macarena
    JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (02) : 218 - 219
  • [29] Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones
    Begam, M. A.
    Alsafi, W.
    Bekdache, G. N.
    Chedid, F.
    Al-Gazali, L.
    Mirghani, H. M.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2011, 38 (05) : 553 - 558
  • [30] Delayed tetraplegia after thoracolumbar scoliosis surgery in Stuve-Wiedemann syndrome
    Pizones J.
    Sponseller P.D.
    Izquierdo E.
    Sanz E.
    Sánchez-Mariscal F.
    Álvarez P.
    Zúñiga L.
    Spine Deformity, 2013, 1 (1) : 72 - 78