DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

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

Review Article

053
Recker, Florian; Reutter, Heiko; Ludwig, Michael: Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects
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
Vazquez, Michelle N.; Simson, Gabrielle Gold-von: Discomfort with uncertainty: Is testing for Brugada syndrome in the neonatal period warranted?
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