Senior-Loken syndrome associated with mental retardation and microcephaly

被引：2
|
作者：
Tanaka, H [1 ]
Waga, S [1 ]
Tateyama, T [1 ]
Suzuki, KI [1 ]
Yamada, S [1 ]
Yokoyama, M [1 ]
机构：
[1] Hirosaki Univ, Sch Med, Dept Pediat, Hirosaki, Aomori 0368562, Japan
来源：
PEDIATRICS INTERNATIONAL | 2001年 / 43卷 / 03期
关键词：
anemia; juvenile nephronophthisis; mental retardation; metabolic acidosis; Senior-Loken syndrome;
D O I：
10.1046/j.1442-200x.2001.01378.x
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：310 / 312
页数：3
相关论文
共 50 条
  • [31] A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome
    Liu, Lili
    Zhou, Yunyu
    Liu, Yue
    Ding, Jiaojiao
    Xie, Yan
    Li, Ningdong
    PEDIATRIC INVESTIGATION, 2023, 7 (02) : 140 - 143
  • [32] SENIOR-LOKEN SYNDROME WITH MARBELIZED FUNDUS AND UNUSUAL SKELETAL ABNORMALITIES A CASE-REPORT
    LAUWERYNS, B
    LEYS, A
    VANHAESENDONCK, E
    MISSOTTEN, L
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 1993, 231 (04) : 242 - 248
  • [33] SENIOR-LOKEN SYNDROME (FAMILIAL RENAL-RETINAL DYSTROPHY) AND COATS DISEASE
    SCHUMAN, JS
    LIEBERMAN, KV
    FRIEDMAN, AH
    BERGER, M
    SCHOENEMAN, MJ
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1985, 100 (06) : 822 - 827
  • [34] SENIOR-LoKEN SYNDROME A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis
    Yahalom, Claudia
    Volovelsky, Oded
    Macarov, Michal
    Altalbishi, Alaa
    Alsweiti, Yahya
    Schneider, Nina
    Hanany, Mor
    Khan, Muhammad Imran
    Cremers, Frans P. M.
    Anteby, Irene
    Banin, Eyal
    Sharon, Dror
    Khateb, Samer
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2021, 41 (10): : 2179 - 2187
  • [35] Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene
    Omran, H
    Sasmaz, G
    Häffner, K
    Volz, A
    Olbrich, H
    Melkaoui, R
    Otto, E
    Wienker, TF
    Korinthenberg, R
    Brandis, M
    Antignac, C
    Hildebrandt, F
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (01): : 75 - 79
  • [36] Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa
    Rishi, Ekta
    Goel, Sugandha
    Rishi, Pukhraj
    CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE, 2021, 56 (04): : E112 - E114
  • [37] Senior Loken syndrome
    Jellouli, Manel
    Gargah, Tahar
    PAN AFRICAN MEDICAL JOURNAL, 2015, 22
  • [38] SENIOR-LOKEN SYNDROME - CASE-REPORTS OF 2 SIBLINGS AND ASSOCIATION WITH SENSORINEURAL DEAFNESS
    CLARKE, MP
    SULLIVAN, TJ
    FRANCIS, C
    BAUMAL, R
    FENTON, T
    PEARCE, WG
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1992, 76 (03) : 171 - 172
  • [39] Senior Loken Syndrome
    Kaur, Amarpreet
    Dhir, Shashi Kant
    Goyal, Geetika
    Mittal, Naveen
    Goyal, R. K.
    JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2016, 10 (11) : SD3 - SD4
  • [40] Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome
    Tong, Huajuan
    Yue, Zhihui
    Sun, Liangzhong
    Chen, Huiqin
    Wang, Weiguang
    Wang, Haiyan
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1542 - 1542
12345