Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation

被引：0
|
作者：
Cheng Haoling [1 ]
Chen Dianfu [7 ]
Wu Zhiying [7 ]
Wang Ning [1 ]
机构：
[1] Department of Neurology
[2] First Affiliated Hospital  3. Fujian Medical University  4. Fuzhou  5. Fujian 350005 
[3] Department of Neurology and Research Center of Neurology in Second Affiliated Hospital
[4] and Key Laboratory of Medical Neurobiology of Zhejiang Province  9. Zhejiang University School of Medicine  10. Hangzhou 
来源：
中华医学杂志英文版 | 2023年 / 136卷 / 17期
基金：
中国国家自然科学基金;
关键词：
D O I：
暂无
中图分类号：
R596.1 [染色体病];
学科分类号：
1002 ; 100201 ;
摘要：
<正>
引用
收藏
相关论文
共 50 条
  • [1] Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation
    Cheng, Haoling
    Chen, Dianfu
    Wu, Zhiying
    Wang, Ning
    CHINESE MEDICAL JOURNAL, 2023, 136 (17) : 2110 - 2112
  • [2] Neurologic Features and Genotype-Phenotype Correlation in Wolfram Syndrome
    Chaussenot, Annabelle
    Bannwarth, Sylvie
    Rouzier, Cecile
    Vialettes, Bernard
    Ait El Mkadem, Samira
    Chabrol, Brigitte
    Cano, Aline
    Labauge, Pierre
    Paquis-Flucklinger, Veronique
    ANNALS OF NEUROLOGY, 2011, 69 (03) : 501 - 508
  • [3] Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome
    Shoji, Yasuko
    Ida, Shinobu
    Niihori, Tetsuya
    Aoki, Yoko
    Okamoto, Nobuhiko
    Etani, Yuri
    Kawai, Masanobu
    ENDOCRINE JOURNAL, 2019, 66 (11) : 983 - 994
  • [4] GENOTYPE-PHENOTYPE CORRELATION IN BRAZILLIAN RETT SYNDROME PATIENTS
    de Lima, Fernanda T.
    Brunoni, Decio
    Schwartzman, Jose Salomao
    Pozzi, Maria Cristina
    Kok, Fernando
    Juliano, Yara
    Pereira, Lygia da Veiga
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2009, 67 (3A) : 577 - 584
  • [5] Genotype-phenotype correlation in Down syndrome
    Trivino, E
    Sierra, C
    Dolade, M
    Navarro, E
    Brandi, N
    Mira, A
    Cabre, E
    Martin, S
    Pastor, MC
    Crespo, M
    SeresSantamaria, A
    Gimenez, C
    CYTOGENETICS AND CELL GENETICS, 1997, 77 : 22 - 23
  • [6] Genotype-phenotype correlation in Marfan syndrome
    Child, AH
    Arahon-Martin, J
    Comeglio, P
    MATRIX BIOLOGY, 2004, 23 (06) : 396 - 397
  • [7] Genotype-phenotype correlation in Apert syndrome
    Mcglaughlin, K.
    Anderson, P.
    Netherway, D.
    Roscioli, T.
    Yusof, A.
    Carney, B.
    Coxon, R.
    David, D.
    Craniofacial Surgery, 2005, : 297 - 299
  • [8] Genotype-phenotype correlation analysis in Japanese patients with pachydermoperiostosis
    Tanaka, R.
    Niizeki, H.
    Nomura, T.
    Seki, A.
    Narumi, S.
    Nakabayashi, K.
    Yoshida, K.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (05) : S73 - S73
  • [9] Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
    Kraemer, K. H.
    Patronas, N. J.
    Schiffmann, R.
    Brooks, B. P.
    Tamura, D.
    Digiovanna, J. J.
    NEUROSCIENCE, 2007, 145 (04) : 1388 - 1396
  • [10] Genotype-phenotype correlation in patients suspected of having Sotos syndrome
    de Boer, L
    Kant, SG
    Karperien, M
    van Beers, L
    Tjon, J
    Vink, GR
    van Tol, D
    Dauwerse, H
    le Cessie, S
    Beemer, FA
    van der Burgt, I
    Hamel, BCJ
    Hennekam, RC
    Kuhnle, U
    Mathijssen, IB
    Veenstra-Knol, HE
    Stumpel, CTS
    Breuning, MH
    Wit, JM
    HORMONE RESEARCH, 2004, 62 (04) : 197 - 207
12345