DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

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

Review Article

129
Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.: The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

Original Article

141
Bugescu, Nicolle; Naylor, Paige E.; Hudson, Kyr; Aoki, Christa D.; Cordova, Matthew J.; Packman, Wendy: The Psychosocial Impact of Fabry Disease on Pediatric Patients
150
Jacobson, Daniel; Bursch, Megan; Lajiness-O'Neill, Renee: Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome

Case Report

158
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
161
Afroze, Bushra; Chen, Margaret: Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets
167
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
174
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

181
Kaplan, Yusuf Cem: Comment on “Identifying Human Teratogens: An Update”