Volume 2, Number 2, Year 2013

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

Izabela R. Santos, Ana Paula Fernandes, Marinez O. Sousa, Cláudia N. Ferreira, and Karina B. Gomes
Genetic polymorphisms as a risk factor for dyslipidemia in children

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

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

Case Reports
Filip Haenen, Marielle Alders, Elke Dierckx, Paul Van Schil, Veronique Demeulemeester, Geert Mortier, and Kristine Desager
A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

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

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

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