Oculocutaneous Albinism and West Syndrome- A Rare Association

被引:0
|
作者
Patel, Arjun [1 ]
Dewan, Anshu [1 ]
Kela, Gunjan [1 ]
Maheshwari, Ankita [1 ]
Thora, Sharad [1 ]
机构
[1] Sri Aurobindo Inst Med Sci & Res Ctr, Dept Paediat, Indore, Madhya Pradesh, India
来源
JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS | 2019年 / 8卷 / 43期
关键词
INFANTILE SPASMS;
D O I
10.14260/jemds/2019/714
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:3288 / 3291
页数:4
相关论文
共 50 条
  • [41] PMEL is mutated in oculocutaneous albinism
    Lama AlAbdi
    Muneera Alshammari
    Rana Helaby
    Arif O. Khan
    Fowzan S. Alkuraya
    Human Genetics, 2023, 142 : 139 - 144
  • [42] Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India
    Dutta, Tithi
    Ganguly, Kausik
    Saha, Arpan
    Sil, Asim
    Ray, Kunal
    Sengupta, Mainak
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
  • [43] OCULOCUTANEOUS ALBINISM WITH AXENFELD ANOMALY
    BENSON, W
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1981, 92 (01) : 133 - 134
  • [44] Distribution of oculocutaneous albinism in Zimbabwe
    Lund, PM
    JOURNAL OF MEDICAL GENETICS, 1996, 33 (08) : 641 - 644
  • [45] Bardet Biedl syndrome- A rare case
    Shende, Aditi
    Rambhia, Kinjal
    Kapadia, Farida
    INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2024, 90 (05): : 681 - 681
  • [46] PMEL is mutated in oculocutaneous albinism
    AlAbdi, Lama
    Alshammari, Muneera
    Helaby, Rana
    Khan, Arif O.
    Alkuraya, Fowzan S.
    HUMAN GENETICS, 2023, 142 (01) : 139 - 144
  • [47] Retinopathy of prematurity in oculocutaneous albinism
    Chandra, Parijat
    Salunkhe, Nitesh
    Kumar, Vinod
    Kumawat, Devesh
    Tewari, Ruchir
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2019, 67 (06) : 960 - +
  • [48] The Coexistence of Oculocutaneous Albinism with Schizophrenia
    Tsai, Alicia L.
    Agustines, Davin
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2020, 12 (01)
  • [49] Bilateral keratoconus with oculocutaneous albinism
    Rao, Vasudev Anand
    Chaitra, Swathi P.
    Thappa, Devinder Mohan
    INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2008, 74 (04): : 407 - U22
  • [50] SYNCHRONY OF OCULOCUTANEOUS ALBINISM, THE PRADER-WILLI SYNDROME, AND A NORMAL KARYOTYPE
    WALLIS, CE
    BEIGHTON, PH
    JOURNAL OF MEDICAL GENETICS, 1989, 26 (05) : 337 - 339