A case of familial trichomegaly in association with oculocutaneous albinism type 1

被引:10
|
作者
Ziakas, NG [1 ]
Jogiya, A [1 ]
Michaelides, M [1 ]
机构
[1] Moorfields Eye Hosp, London EC1V 2PD, England
关键词
D O I
10.1038/sj.eye.6701326
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:863 / 864
页数:2
相关论文
共 50 条
  • [21] Oculocutaneous Albinism and West Syndrome- A Rare Association
    Patel, Arjun
    Dewan, Anshu
    Kela, Gunjan
    Maheshwari, Ankita
    Thora, Sharad
    JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS, 2019, 8 (43): : 3288 - 3291
  • [22] Clinical and mutational characteristics of oculocutaneous albinism type 7
    Kruijt, C. C.
    de Wit, G. C.
    van Minderhout, H. M.
    Schalij-Delfos, N. E.
    van Genderen, M. M.
    SCIENTIFIC REPORTS, 2024, 14 (01)
  • [23] Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
    Inagaki, K
    Suzuki, T
    Shimizu, H
    Ishii, N
    Umezawa, Y
    Tada, J
    Kikuchi, N
    Takata, M
    Takamori, K
    Kishibe, M
    Tanaka, M
    Miyamura, Y
    Ito, S
    Tomita, Y
    AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (03) : 466 - 471
  • [24] A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1
    Farney, Katie
    Dolinska, Monika B.
    Sergeev, Yuri V.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [25] ALBINISM IN NIGERIA WITH DELINEATION OF NEW RECESSIVE OCULOCUTANEOUS TYPE
    KING, RA
    CREEL, D
    CERVENKA, J
    OKORO, AN
    WITKOP, CJ
    CLINICAL GENETICS, 1980, 17 (04) : 259 - 270
  • [26] FAMILIAL ASSOCIATION OF ALBINISM AND SCHIZOPHRENIA
    CLARKE, DJ
    BUCKLEY, ME
    BRITISH JOURNAL OF PSYCHIATRY, 1989, 155 : 551 - 553
  • [27] The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A
    Teramae, Ayako
    Kobayashi, Yui
    Kunimoto, Hiroyuki
    Nakajima, Koichi
    Suzuki, Tamio
    Tsuruta, Daisuke
    Fukai, Kazuyoshi
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2019, 139 (05) : 1143 - 1149
  • [28] Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1
    Liu, Jing
    Choy, Kwong-Wai
    Chan, Leo W. L.
    Leung, Tak-Yeung
    Tam, Pancy O. S.
    Chiang, Sylvia W. Y.
    Lam, Dennis S. C.
    Pang, Chi-Pui
    Lai, Timothy Y. Y.
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2010, 38 (01): : 37 - 42
  • [29] Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma
    Nathan, Vaishnavi
    Johansson, Peter A.
    Palmer, Jane M.
    Howlie, Madeleine
    Hamilton, Hayley R.
    Wadt, Karin
    Jonsson, Goran
    Brooks, Kelly M.
    Pritchard, Antonia L.
    Hayward, Nicholas K.
    PIGMENT CELL & MELANOMA RESEARCH, 2019, 32 (06) : 854 - 863
  • [30] Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4
    Ozaki, Saeko
    Funasaka, Yoko
    Otsuka, Yohei
    Oyama, Satomi
    Ito, Michiko
    Osada, Shin-ichi
    Ueno, Takashi
    Okamura, Ken
    Hozumi, Yutaka
    Suzuki, Tamio
    Kawana, Seiji
    Saeki, Hidehisa
    ACTA DERMATO-VENEREOLOGICA, 2017, 97 (02) : 287 - 288