DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 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”