Volume 3, Number 3, Year 2014


Review Article
Jorge Arturo Avina Fierro and Daniel Alejandro Hernández Avina
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism


Original Articles
Jacky Au, Laura Berkowitz-Sutherland, Andrea Schneider, Julie B. Schweitzer, David Hessl, and Randi Hagerman
A feasibility trial of Cogmed working memory training in fragile X syndrome


Dimple Sureka, Chantal Stheneur, Sylvie Odent, Gavin Arno, Daniel Murphy, and Jonathan A. Bernstein
A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome


Case Reports
Virendra Mehar, Dinesh Yadav, Ravindra Kumar, Summi Yadav, Kuldeep Singh, Bert Callewaert, Shahnawaz Pathan, Anne De Paepe, and Paul J. Coucke
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene


Alka V. Ekbote, Mohan S. Kamath, and Sumita Danda
MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder


Puspal De, Tridip Chatterjee, Sudipa Chakravarty, and Amit Chakravarty
Clinical presentation of two ╬▓-thalassaemic Indian patients with 1p36 deletion syndrome: Case report


Book Review
Joann N. Bodurtha and Jessica Duis
Signs and symptoms of genetic conditions - A handbook