Volume 4, Number 1, Year 2015


Review Articles
Hatem Zayed
Krabbe Disease in the Arab World


Walter M. Sweeney, Steve T. Lanier, Chad A. Purnell, and Arun K. Gosain
Genetics of Cleft Palate and Velopharyngeal Insufficiency


Original Article
Ilária C. Sgardioli, Társis P. Vieira, Milena Simioni, Fabíola P. Monteiro, and Vera L. Gil-da-Silva-Lopes
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening


Case Reports
Ann Genovese, Devin M. Cox, and Merlin G. Butler
Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings


Joana Regala, Branca Cavaco, Rita Domingues, Catarina Limbert, and Lurdes Lopes
Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia


Devin M. Cox and Merlin G. Butler
A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome


Contributing Reviewers in 2014