J Med Life Sci > Volume 12(2); 2015 > Article
Journal of Medicine and Life Science 2015;12(2):69-71.
DOI: https://doi.org/10.22730/jmls.2015.12.2.69    Published online December 18, 2018.
PAX2 돌연변이에 의한 신장시신경유두결손 증후군을 진단 받은 15세 남자 환자
, , ,
15-year old man patient with renal coloboma syndrome caused by PAX2mutation
Yeo Jin Lee, Hye Jin Lee, Hae Il Cheong, Kyoung Hee Han
Correspondence:  Kyoung Hee Han,
Abstract
Renal coloboma syndrome (RCS) is characterized by renal hypoplasia and optic disc coloboma. RCS is an autosomal dominant inherited disorder caused by PAX2 gene mutations. We report a case of RCS caused by PAX2 gene mutation in a 15-year-old man.
Key Words: Coloboma; Renal Coloboma Syndrome; Renal Hypoplasia; Renal Insufficiency, Chronic; PAX2 Transcription Factor
TOOLS
METRICS Graph View
  • 0 Crossref
  •  0 Scopus
  • 856 View
  • 3 Download
Related articles


ABOUT
BROWSE ARTICLES
EDITORIAL POLICY
FOR CONTRIBUTORS
Editorial Office
102, Jejudaehak-ro, Jeju-si, Jeju-do 63243, Republic of Korea
Tel: +82-64-754-8023    E-mail: jmls.jeju@gmail.com                

Copyright © 2024 by Jeju National University Institute for Medical Science.

Developed in M2PI

Close layer
prev next