FIVE CASES OF CHARGE SYNDROME WITH UNIQUE PHENOTYPES AND MUTATIONS IN THE CHD7 GENE

被引:0
|
作者
Li, C. [1 ]
Szybowska, M. [1 ]
Ray, P. [2 ,3 ]
机构
[1] McMaster Univ, Med Ctr, Hamilton, ON, Canada
[2] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Toronto, ON M5S 1A1, Canada
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
引用
收藏
页码:1715 / 1716
页数:2
相关论文
共 50 条
  • [1] CHARGE syndrome:: the phenotypic spectrum of mutations in the CHD7 gene
    Jongmans, MCJ
    Admiraal, RJ
    van der Donk, KP
    Vissers, LELM
    Baas, AF
    Kapusta, L
    van Hagen, JM
    Donnai, D
    de Ravel, TJ
    Veltman, JA
    van Kessel, AG
    De Vries, BBA
    Brunner, HG
    Hoefsloot, LH
    van Ravenswaaij, CMA
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (04) : 306 - 314
  • [2] CHARGE syndrome and CHD7 gene mutation
    de Arriba Munoz, A.
    Monge Galindo, L.
    Lopez Pison, J.
    Lafuente Hidalgo, M.
    Perez Delgado, R.
    Dominguez Cajal, M.
    Rebage, V.
    NEUROLOGIA, 2011, 26 (04): : 255 - 255
  • [3] Ophthalmic features of CHARGE syndrome with CHD7 mutations
    Nishina, Sachiko
    Kosaki, Rika
    Yagihashi, Tatsuhiko
    Azuma, Noriyuki
    Okamoto, Nobuhiko
    Hatsukawa, Yoshikazu
    Kurosawa, Kenji
    Yamane, Takahiro
    Mizuno, Seiji
    Tsuzuki, Kinichi
    Kosaki, Kenjiro
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (03) : 514 - 518
  • [4] Phenotypic spectrum of charge syndrome with CHD7 mutations
    Aramaki, M
    Udaka, T
    Kosaki, R
    Makita, Y
    Okamoto, N
    Yoshihashi, H
    Oki, H
    Nanao, K
    Moriyama, N
    Oku, S
    Hasegawa, T
    Takahashi, T
    Fukushima, Y
    Kawame, H
    Kosaki, K
    JOURNAL OF PEDIATRICS, 2006, 148 (03): : 410 - 414
  • [5] CHARGE syndrome: A new mutation in the CHD7 gene
    Cabrejas Lalmolda, A.
    Conchello Monleon, R.
    Roncales Samanes, P.
    Royo Perez, D.
    Rite Gracia, S.
    ANALES DE PEDIATRIA, 2014, 81 (06): : E46 - E47
  • [6] CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia
    Green, Glenn E.
    Huq, Farhan S.
    Emery, Sarah B.
    Mukherji, Suresh K.
    Martin, Donna M.
    OTOLOGY & NEUROTOLOGY, 2014, 35 (08) : 1466 - 1470
  • [7] Molecular analysis of the CHD7 gene in CHARGE syndrome:: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
    Vuorela, Pla
    Ala-Mello, Sirpa
    Saloranta, Carola
    Penttinen, Malla
    Poyhonen, Minna
    Huoponen, Kirsi
    Borozdin, Wiktor
    Bausch, Birke
    Botzenhart, Elke M.
    Wilhelm, Christian
    Kaariainen, Helena
    Kohlhase, Juergen
    GENETICS IN MEDICINE, 2007, 9 (10) : 690 - 694
  • [8] CHARGE syndrome due to novel mutation in the CHD7 gene
    Avdjieva-Tzavella, Daniela
    Veleva, Tsvetina
    Delchev, Trayan
    Sredkova-Ruskova, Maria
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1132 - 1132
  • [9] Mutation update on the CHD7 gene involved in CHARGE syndrome
    Janssen, Nicole
    Bergman, Jorieke E. H.
    Swertz, Morris A.
    Tranebjaerg, Lisbeth
    Lodahl, Marianne
    Schoots, Jeroen
    Hofstra, Robert M. W.
    van Ravenswaaij-Arts, Conny M. A.
    Hoefsloot, Lies H.
    HUMAN MUTATION, 2012, 33 (08) : 1149 - 1160
  • [10] CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
    Bergman, J. E. H.
    Janssen, N.
    Hoefsloot, L. H.
    Jongmans, M. C. J.
    Hofstra, R. M. W.
    van Ravenswaaij-Arts, C. M. A.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 (05) : 334 - 342