Journal of Pediatric Genetics

Issue 02 · June 2013

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Review Article
053
Recker, Florian; Reutter, Heiko; Ludwig, Michael: Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

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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

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077
Valverde, Diana; Castro-Sánchez, Sheila; Álvarez-Satta, María: Bardet-Biedl syndrome: A rare genetic disease

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085
Oliveira, Camila Ive Ferreira; Fett-Conte, Agnes Cristina: Birth defects: Risk factors and consequences

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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

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097
Vazquez, Michelle N.; Simson, Gabrielle Gold-von: Discomfort with uncertainty: Is testing for Brugada syndrome in the neonatal period warranted?

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103
Freire, Gabrielle; Russell, Laura; Oskoui, Maryam: Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

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109
Dayal, Devi; Dekate, Parag; Sharda, Sheetal; Das, Ashim; Attri, Savita: An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

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