Volume 5, Number 3, Year 2016

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


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


Daniel Jacobson, Megan Bursch, and Renee Lajiness-O'Neill
Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome


Case Reports
Letizia Capasso, Angela Carla Borrelli, Julia Cerullo, Maria Rosaria Pirozzi, and Francesco Raimondi
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins


Bushra Afroze and Margaret Chen
Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets


Esther Kinning, Martin McMillan, Sheila Shepherd, Miep Helfrich, Rob vant Hof, Christopher Adams, Heather Read, Daniel M. Wall, and S. Faisal Ahmed
An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels


Sarah L. Nickerson, Shanti Balasubramaniam, Philippa A. Dryland, Jennifer M. Love, Maina P. Kava, Donald R. Love, and Debra O. Prosser
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia


Letter to the Editor
Yusuf Cem Kaplan
Comment on “Identifying Human Teratogens: An Update”