The Genetics of Growth: Pediatric Endocrinology

OR24-1

Whole-Exome Sequencing Identifies ACAN Mutations in Autosomal Dominant Short Stature with Accelerated Skeletal Maturation
Ola Nilsson, Michael Guo, Nancy S Dunbar, Jadranka Popovic, Daniel P Flynn, Christina Jacobsen, Julian Lui, Joel N Hirschhorn, Jeffrey Baron and Andrew Dauber

OR24-2

Novel Variant in CDKN1C Associated with Intrauterine Growth Restriction, Short Stature, and Early-Adulthood Onset Diabetes
Sarah L Kerns, Jaime Guevara-Aguirre, Shayne F Andrew, Juan Geng, Carolina Guevara, Marco Guevara-Aguirre, Michael Guo, Yiping Shen, Andres Zurita, Ron G Rosenfeld, Harry Ostrer, Vivian Hwa and Andrew Dauber

OR24-3

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation
Jurgen Klammt, David Neumann, Shayne F Andrew, Doris Vokurkova, Heike Stobbe, Kyle Buckham, Ron G Rosenfeld, Roland Pfäffle and Vivian Hwa

OR24-4

Human Monoclonal Antibody Fragments for Targeting Therapeutics to Growth Plate Cartilage
Julian Lui, Crystal Cheung, Zhongyu Zhu, Dimiter Dimitrov and Jeffrey Baron

OR24-5

Targeted High-Throughput Sequencing of RAS/MAPK Pathway Genes for Diagnosis of Noonan Syndrome (NS) and Noonan-Related Disorders (NRD)
Alexsandra C Malaquias, Michelle B Moraes, Antonio M Lerario, Ericka Barbosa Trarbach, Miguel Mitne-Neto, Alexandre C Pereira, Debora R Bertola, Milena Gurgel Teles and Alexander Augusto Lima Jorge

OR24-6

Genetic Analysis of the Mountain Ok People, a Short Stature Population in Papua New Guinea (PNG), Using Exome Chip Genotyping Data
Shweta Ramdas, Amita Adhikari, Amanda McGinnis, Sarah L Ward, Goncalo Abecasis, Robert C. Brumbaugh, Jun Z. Li and Jessica Schwartz