Dominant oculo-auriculo-vertebral complex

被引:0
|
作者
Gasser, B
Viville, B
Treisser, A
Stoll, C
机构
[1] CHU Strasbourg, Inst Pathol Anat, F-67000 Strasbourg, France
[2] CHU Strasbourg, Serv Genet Med, F-67000 Strasbourg, France
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
548
引用
收藏
页码:A98 / A98
页数:1
相关论文
共 50 条
  • [41] Cutaneous fistula on the cheek associated with oculo-auriculo-vertebral spectrum
    Nishimoto, Soh
    Kawai, Kenichiro
    Fujiwara, Toshihiro
    Ishise, Hisako
    Kakibuchi, Masao
    JOURNAL OF SURGICAL CASE REPORTS, 2022, 2022 (05):
  • [42] Case of oculo-auriculo-vertebral spectrum: rare clinical features
    Khera, Daisy
    Agarwal, Saurabh
    Kumar, Prawin
    Singh, Kuldeep
    BMJ CASE REPORTS, 2021, 14 (03)
  • [43] Genome-wide DNA methylation analysis of a cohort of 41 patients affected by Oculo-Auriculo-Vertebral Spectrumpatients affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
    Guida, Valentina
    Calzari, Luciano
    Fadda, Maria Teresa
    Piceci-Sparascio, Francesca
    Digilio, Maria Cristina
    Bernardini, Laura
    Brancati, Francesco
    Mattina, Teresa
    Melis, Daniela
    Forzano, Francesca
    Briuglia, Silvana
    Mazza, Tommaso
    Bianca, Sebastiano
    Valente, Enza Maria
    Salehi, Leila Bagherjad
    Prontera, Paolo
    Mario, Pagnoni
    Tenconi, Romano
    Dallapiccola, Bruno
    Iannetti, Giorgio
    Corsaro, Luigi
    De Luca, Alessandro
    Gentilini, Davide
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 551 - 552
  • [44] Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum
    Berio, Agostino
    Garlaschi, Giacomo
    Mangiante, Giuseppe
    Mariottini, Gian Luigi
    Piazzi, Attilia
    JOURNAL OF BIOLOGICAL RESEARCH-BOLLETTINO DELLA SOCIETA ITALIANA DI BIOLOGIA SPERIMENTALE, 2019, 92 (01): : 17 - 23
  • [45] Airway in the oculo-auriculo-vertebral spectrum: Two cases and a review of the literature
    McCarthy, VP
    Zimo, DA
    Lucas, MA
    PEDIATRIC PULMONOLOGY, 2001, 32 (03) : 250 - 256
  • [46] OCULO-AURICULO-VERTEBRAL DYSPLASIA (GOLDENHARS SYNDROME) CONCORDANT IN IDENTICAL TWINS
    TERHAAR, B
    ACTA GENETICAE MEDICAE ET GEMELLOLOGIAE, 1972, 21 (1-2): : 116 - &
  • [47] Oculo-auriculo-vertebral spectrum: Cranial and vertebral malformations due to focal disturbed chondrogenesis
    GoretNicaise, M
    Baertz, G
    Saussoy, P
    Dhem, A
    JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY, 1997, 17 (01): : 35 - 42
  • [48] OCULO-AURICULO-VERTEBRAL SPECTRUM SYNDROME: ATYPICAL MANIFESTATION OF AN UNCOMMON PATHOLOGY
    Fresneda, O. Salcedo
    Moran, E. Fernandez
    Ovalle, S. Rodriguez
    Lumbreras, M. Munoz
    Alonso, A. Alonso
    Colomer, B. Fernandez
    BOLETIN DE PEDIATRIA, 2023, 63 (264): : 123 - 125
  • [49] Oculo-auriculo-vertebral Spectrum (Goldenhar Syndrome): Presentation of Three Cases
    Benli, Samet
    Caglar, Atika
    Taskin, Erdal
    Aydin, Mustafa
    IRANIAN JOURNAL OF NEONATOLOGY, 2021, 12 (04) : 96 - 100
  • [50] Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
    Mendes Pegler, Jos Roberto
    de Queiroz Soares, Diogo Cordeiro
    D'Angioli Costa Quaio, Caio Robledo
    Fernandes, Natalia
    Nunes de Oliveira, Luiz Antonio
    Honjo, Rachel Sayuri
    Bertola, Debora Romeo
    Kim, Chong Ae
    REVISTA DA ASSOCIACAO MEDICA BRASILEIRA, 2016, 62 (03): : 202 - 206