THE BRANCHIO-OTO-RENAL (BOR) SYNDROME - REPORT OF BILATERAL RENAL AGENESIS IN 3 SIBS

被引:30
|
作者
CARMI, R
BINSHTOCK, M
ABELIOVICH, D
BARZIV, J
机构
[1] SOROKA UNIV HOSP,DEPT PEDIAT,BEERSHEBA,ISRAEL
[2] SOROKA UNIV HOSP,CYTOGENET LAB,BEERSHEBA,ISRAEL
[3] BEN GURION UNIV NEGEV,FAC HLTH SCI,IL-84120 BEERSHEBA,ISRAEL
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1983年 / 14卷 / 04期
关键词
D O I
10.1002/ajmg.1320140405
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:625 / 627
页数:3
相关论文
共 50 条
  • [31] Bradycardia with sevoflurane in siblings with branchio-oto-renal syndrome
    Taylor, Matthew H. G.
    Wilton, Niall C. T.
    PEDIATRIC ANESTHESIA, 2007, 17 (01) : 80 - 83
  • [32] Genetic heterogeneity associated with branchio-oto-renal syndrome
    Kumar, S
    Kimberling, WJ
    Marres, HAM
    Cremers, CWRJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 83 (03): : 207 - 208
  • [33] Branchio-oto-renal syndrome (BOR):: Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR
    Orten, Dana J.
    Fischer, Stephanie M.
    Sorensen, Jessica L.
    Radhakrishna, Uppala
    Cremers, Cor W. R. J.
    Marres, Henri A. M.
    Van Camp, Guy
    Welch, Katherine O.
    Smith, Richard J. H.
    Kimberling, William J.
    HUMAN MUTATION, 2008, 29 (04) : 537 - 544
  • [34] Molecular analysis of nine children with branchio-oto-renal syndrome
    Pérez-Nanclares, G
    Bilbao, JR
    Gusmano, R
    Castaño, L
    Rodríguez-Soriano, J
    PEDIATRIC RESEARCH, 2003, 54 (04) : 616 - 616
  • [35] Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge
    Kameswaran M.
    Kumar R.S.A.
    Murali S.
    Raghunandhan S.
    Karthikeyan K.
    Indian Journal of Otolaryngology and Head & Neck Surgery, 2007, 59 (3) : 280 - 283
  • [36] A family with the branchio-oto-renal syndrome: clinical and genetic correlations
    Pierides, AM
    Athanasiou, Y
    Demetriou, K
    Koptides, M
    Deltas, CC
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2002, 17 (06) : 1014 - 1018
  • [37] The role of genetic testing in the diagnosis of Branchio-Oto-Renal syndrome
    Donielaite-Anise, Kamile
    Jankauskiene, Augustina
    PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S270 - S271
  • [39] Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review
    Li, Hong-Xia
    Zhou, Peng
    Tong, Min
    Zheng, Yan
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2020, 48 (07)
  • [40] Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
    Tang, Ping
    Li, Jiarui
    Li, Jun
    Yang, Juan
    Zhu, Jianjun
    MEDICINE, 2022, 101 (43) : E31172