DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 02 · June 2013 DOI: 10.1055/s-005-29729

Review Article

  • 053
  • 069
    Santos, Izabela R.; Fernandes, Ana Paula; Sousa, Marinez O.; Ferreira, Cláudia N.; Gomes, Karina B.:

    Genetic polymorphisms as a risk factor for dyslipidemia in children

  • 077
    Valverde, Diana; Castro-Sánchez, Sheila; Álvarez-Satta, María:

    Bardet-Biedl syndrome: A rare genetic disease

  • 085
    Oliveira, Camila Ive Ferreira; Fett-Conte, Agnes Cristina:

    Birth defects: Risk factors and consequences

  • Case Report

  • 091
    Haenen, Filip; Alders, Marielle; Dierckx, Elke; Schil, Paul Van; Demeulemeester, Veronique; Mortier, Geert; Desager, Kristine:

    A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

  • 097
  • 103
    Freire, Gabrielle; Russell, Laura; Oskoui, Maryam:

    Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

  • 109
    Dayal, Devi; Dekate, Parag; Sharda, Sheetal; Das, Ashim; Attri, Savita:

    An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation