DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 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