DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 02 · December 2013 DOI: 10.1055/s-005-29731

  • 173
    Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Richieri-Costa, Antonio; Santos, Juliana M.; Kokitsu-Nakata, Nancy M.:

    Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

  • 181
    Chida, Ayako; Shintani, Masaki; Wakamatsu, Hajime; Tsutsumi, Yoshiyuki; Iizuka, Yuo; Kawaguchi, Nanako; Furutani, Yoshiyuki; Inai, Kei; Nonoyama, Shigeaki; Nakanishi, Toshio:

    ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation

  • 191
    Lamichhane, Dronacharya:

    New AP4B1 mutation in an African-American child associated with intellectual disability

    • Case Report

  • 197
    Udayakumar, Achandira M.; Al-Kindy, Adila:

    Constitutional trisomy 8 mosaicism syndrome: case report and review

  • 203
    Westberry, David; Pugh, Linda:

    Zellweger syndrome: an older child with progressive foot deformity