DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 05 · September 2016 DOI: 10.1055/s-006-32340

Review Article


Original Article

Bugescu, Nicolle; Naylor, Paige E.; Hudson, Kyr; Aoki, Christa D.; Cordova, Matthew J.; Packman, Wendy: The Psychosocial Impact of Fabry Disease on Pediatric Patients

Case Report

Capasso, Letizia; Borrelli, Angela Carla; Cerullo, Julia; Pirozzi, Maria Rosaria; Raimondi, Francesco: Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins
Kinning, Esther; McMillan, Martin; Shepherd, Sheila; Helfrich, Miep; Hof, Rob vant; Adams, Christopher; Read, Heather; Wall, Daniel M.; Ahmed, S. Faisal: An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels
Nickerson, Sarah L.; Balasubramaniam, Shanti; Dryland, Philippa A.; Love, Jennifer M.; Kava, Maina P.; Love, Donald R.; Prosser, Debra O.: Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

Letter to the Editor