Volume 2, Number 3, Year 2013
Original Articles
Lukas Soellner, Sabrina Spengler, Matthias Begemann, Hartmut A. Wollmann, Gerhard Binder, and Thomas Eggermann
IGF1R mutation analysis in short children with Silver-Russell syndrome features
Adriana C. Vidal, Francine Overcash, Susan K. Murphy, Amy P. Murtha, Joellen M. Schildkraut, Michele R. Forman, Wendy Demark-Wahnefried, Joanne Kurtzberg, David Skaar, Randy L. Jirtle, and Cathrine Hoyo
Associations between birth and one year anthropometric measurements and IGF2 and IGF2R genetic variants in African American and Caucasian American infants
Miguel A. Alcántara-Ortigoza, Astrid B. Martínez-Bernal, Leticia Belmont-Martínez, Marcela Vela-Amieva, and Ariadna González-del Angel
CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis
Elena Ramos-Trujillo, Felix Claverie-Martin¸Victor Garcia-Nieto, Gema Ariceta, Julia Vara, Hilaria Gonzalez-Acosta, Marta Garcia-Ramirez, Jaime Fons, Elizabeth Cordoba-Lanus, Javier Gonzalez-Paredes, Blanca Valenciano, Leticia Ramos, Rafael Muley, Marina Caggiani, Pilar Alvarez-Estrada, Alvaro Madrid, and the RenalTube Group
Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene
Case Reports
Achandira M. Udayakumar and Adila Al-Kindy
A rare case of de novo mosaicism: Deletion 18p and Isochromosome 18q Syndrome
Inesse B. Abdallah-Bouhjar, Soumaya Mougou-Zerelli, Hanene Hannachi, Abir Gmidène, Audrey Labalme, Najla Soyah, Damien Sanlaville, Ali Saad, and Hatem Elghezal
Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients
Merlin G. Butler, Kelly M. Usrey, Jennifer L. Roberts, Ann M. Manzardo, and Stephen R. Schroeder
20q13.2-q13.33 deletion syndrome: A case report
Pankaj Sharma, Neerja Gupta, Madhumita R. Chowdhury, Savita Sapra, Rashmi Shukla, Meena Lall, and Madhulika Kabra
Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p
Erratum
S. Castro-Sanchez, M. Alvarez-Satta, and D. Valverde
Bardet-Biedl syndrome: A rare genetic disease