Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

被引：0
|
作者：
Freya KR Swinnen
Paul J Coucke
Anne M De Paepe
Sofie Symoens
Fransiska Malfait
Filomena V Gentile
Luca Sangiorgi
Patrizia D'Eufemia
Mauro Celli
Ton JTM Garretsen
Cor WRJ Cremers
Ingeborg JM Dhooge
Els MR De Leenheer
机构：
[1] Ghent University Hospital,Department of Otorhinolaryngology
[2] Ghent University Hospital,Center for Medical Genetics
[3] Rizzoli Orthopaedic Institute,Department of Medical Genetics and Rare Orthopaedic Diseases
[4] La Sapienza University of Rome,Department of Pediatrics
[5] Medical Centre Alkmaar,Department of Otorhinolaryngology
[6] FC Donders Institute for Neurosciences,Department of Otorhinolaryngology
[7] Radboud University Nijmegen Medical Centre,undefined
来源：
Orphanet Journal of Rare Diseases | / 6卷
关键词：
Osteogenesis Imperfecta; hearing loss; genotype-phenotype correlation;
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
  • [21] Wormian Bones in Osteogenesis Imperfecta: Correlation to Clinical Findings and Genotype
    Semler, Oliver
    Cheung, Moira S.
    Glorieux, Francis H.
    Rauch, Frank
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (07) : 1681 - 1687
  • [22] Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V
    Zhang, Zeng
    Li, Mei
    He, Jin-Wei
    Fu, Wen-Zhen
    Zhang, Chang-Qing
    Zhang, Zhen-Lin
    PLOS ONE, 2013, 8 (08):
  • [23] Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta
    Byrd, Jay J.
    White, Andrew C.
    Nissen, Claire G.
    Schissel, Makayla
    Van Ormer, Matthew
    Velasco, Danita
    Wallace, Maegen
    JBMR PLUS, 2024, 8 (11)
  • [24] National study on osteogenesis imperfecta - genotype and phenotype in 150 Portuguese patients
    Travessa, Andre M.
    Dias, Patricia
    Aza-Carmona, Miriam
    Rosmaninho-Salgado, Joana
    Saraiva, Teresa
    Grangeia, Ana
    Amorim, Marta
    Goncalves-Rocha, Miguel
    Araujo, Graca
    Santos, Heloisa
    Medeira, Ana
    Cordeiro, Isabel
    Dupont, Juliette
    Moldovan, Oana
    Beleza, Ana
    Sa, Joaquim
    Saraiva, Jorge M.
    Ramos, Lina
    Venancio, Margarida
    Maia, Sofia
    Fernandes, Sofia
    Soares, Gabriela
    Freixo, Joao P.
    Bandeira, Anabela
    Campagnolo, Joao
    Godinho, Fatima
    Cassiano-Neves, M.
    Tavares, Viviana
    Teixeira, Filomena
    Kay, Teresa
    Oliveira, Renata
    Fortuna, Ana
    Sousa, Sergio B.
    Heath, Karen E.
    Sousa, Ana Berta
    MEDICINE, 2019, 98 (26)
  • [25] Relationship Between Genotype and Skeletal Phenotype in Children and Adolescents with Osteogenesis Imperfecta
    Rauch, Frank
    Lalic, Liljana
    Roughley, Peter
    Glorieux, Francis H.
    JOURNAL OF BONE AND MINERAL RESEARCH, 2010, 25 (06) : 1367 - 1374
  • [26] Expanding the Genotype-phenotype Correlation of Osteogenesis Imperfecta with a Novel Mutation in Col1A2 Gene
    Al Qanoobi, M. J.
    Ryan, H.
    McDonnell, C. M.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2018, 187 : S191 - S191
  • [27] Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation
    Balasubramanian, M.
    Sobey, G. J.
    Wagner, B. E.
    Peres, L. C.
    Bowen, J.
    Bexon, J.
    Javaid, M. K.
    Arundel, P.
    Bishop, N. J.
    ULTRASTRUCTURAL PATHOLOGY, 2016, 40 (02) : 71 - 76
  • [28] Genotype–phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta
    X. Lin
    J. Hu
    B. Zhou
    Q. Zhang
    Y. Jiang
    O. Wang
    W. Xia
    X. Xing
    M. Li
    Journal of Endocrinological Investigation, 2024, 47 : 67 - 77
  • [29] Genotype-Phenotype Correlations in Osteogenesis Imperfecta: A Retrospective Study in 294 Patients
    Byrd, Jay
    White, Andrew
    Schissel, Makayla
    VanOrmer, Matthew
    Velasco, Danita
    Wallace, Maegen
    JOURNAL OF BONE AND MINERAL RESEARCH, 2023, 38 : 74 - 75
  • [30] Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure
    Ballenger, Kaitlin L.
    Tugarinov, Nicol
    Talvacchio, Sara K.
    Knue, Marianne M.
    Do, An N. Dang
    Ahlman, Mark A.
    Reynolds, James C.
    Yanovski, Jack A.
    Marini, Joan C.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2022, 107 (01): : 67 - 76
12345