• Title of article

    Unilateral Kidney Agenesis in a Child with Fraser Syndrome: A Case Report

  • Author/Authors

    Metanat, Zahra Provincial Clinical Genetic Counseling Center - Zahedan University of Medical Sciences, Zahedan, IR Iran , Tabatabaei, Mehdi Health Promotion Research Center - Zahedan University of Medical Sciences, Zahedan, IR Iran , Zenker, Martin Institute for Human Genetics - Molecular Genetic Laboratory - Magdeburg University Clinic, Germany , Shafeghati, Yousef Sarem Cell Research Center - SaremWomen Hospital and University of SocialWelfare Sciences and Rehabilitation, Tehran, IR Iran

  • Pages
    3
  • From page
    1
  • To page
    3
  • Abstract
    We report a 6-year-old girl with multiple congenital anomalies compatible with Fraser syndrome (cryptophthalmos, syndactyly, and craniofacial abnormalities) and multiple urogenital abnormalities including unilateral renal agenesis resulting from mutations in the FRAS1 gene Exon58:C. 8698G-T (homozygous). The parents were heterozygous for the same mutation.
  • Keywords
    Urogenital Abnormalities , Renal Agenesis , Fraser Syndrome
  • Journal title
    Astroparticle Physics
  • Serial Year
    2017
  • Record number

    2427361

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2427361