DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 03 · September 2014 DOI: 10.1055/s-005-29734

Review Article

  • 141
    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández:

    Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

  • 147
    Au, Jacky; Berkowitz-Sutherland, Laura; Schneider, Andrea; Schweitzer, Julie B.; Hessl, David; Hagerman, Randi:

    A feasibility trial of Cogmed working memory training in fragile X syndrome

  • 157
    Sureka, Dimple; Stheneur, Chantal; Odent, Sylvie; Arno, Gavin; Murphy, Daniel; Bernstein, Jonathan A.:

    A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

    • Case Report

  • 163
    Mehar, Virendra; Yadav, Dinesh; Kumar, Ravindra; Yadav, Summi; Singh, Kuldeep; Callewaert, Bert; Pathan, Shahnawaz; De Paepe, Anne; Coucke, Paul J.:

    Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

    Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
  • 167
    Ekbote, Alka V.; Kamath, Mohan S.; Danda, Sumita:

    MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder

  • 175
    De, Puspal; Chatterjee, Tridip; Chakravarty, Sudipa; Chakravarty, Amit:

    Clinical presentation of two β-thalassemic Indian patients with 1p36 deletion syndrome: Case report

    • Book Review

  • 183
    Bodurtha, Joann N.; Duis, Jessica:

    Signs and symptoms of genetic conditions – A handbook