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
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.
