From the Genome to the Clinic: Growth and Puberty Disorders

OR03-1

A New Syndrome of Short Stature, Mild Microcephaly, Skeletal Abnormalities and High Circulating IGF1, IGFBP3 and ALS Associated with a Homozygous Mutation in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2, pappalysin2)
María Teresa Muñoz-Calvo, Vicente Barrios, Jesús Pozo, Gabriel Ángel Martos-Moreno, Federico G Hawkins, Horacio M Domene, Hector G. Jasper, Shoshana Yakar, Cheryl A Conover, John J Kopchick, Julie Ann Chowen, Ron G Rosenfeld, Luis A Pérez-Jurado and Jesús Argente

OR03-2

Novel Homozygous IGF1 Receptor (IGF1R) Mutation, p.A711_E714del, in Two Siblings with Severe Growth Failure, Congenital Malformations, Deafness and Insulin Insensitivity
Isabelle Maystadt, Shayne F Andrew, Jean De Schepper, Nathalie Wauters, Valerie Benoît, Pascal Joset, Beatrice Oneda, Andrew Dauber, Ron G Rosenfeld, Anita Rauch and Vivian Hwa

OR03-3

X-Linked Acro-Gigantism (X-LAG) Due to Microduplications of Chromosome Xq26: A New Disorder and Implications for Acromegaly
Giampaolo Trivellin, Adrian F Daly, Fabio R Faucz, Bo Yuan, Liliya Rostomyan, Darwin Omar Larco, Marie Helene Schernthaner-Reiter, Eva Szarek, Leticia F. Leal, Jean-Hubert Caberg, Emilie Castermans, Chiara Villa, Aggeliki Dimopoulos, Prashant Chittiboina, Paraskevi Xekouki, Nalini Samir Shah, Daniel Metzger, Philippe A Lysy, Emanuele Ferrante, Natalia Strebkova, Nadia Mazerkina, Maria Chiara Zatelli, Maya Beth Lodish, Anelia Dafinova Horvath, Rodrigo Bertollo de Alexandre, Allison D Manning, Isaac Levy, Margaret Farmar Keil, Maria De La Luz Sierra, Leonor Palmeira, Wouter Coppieters, Michel Georges, Luciana Ansaneli Naves, Tim D. Cheetham, Gustavo Barcelos Barra, Mauricette Jamar, Vincent Bours, Tao-Yiao J Wu, Catherine S. Choong, Jerome Yves Bertherat, Philippe Chanson, Peter Kamenický, William E. Farrell, Anne Barlier, Martha M Quezado, Ivana Bjelobaba, Stanko S Stojilkovic, Jurgen Wess, Stefano Costanzi, Pengfei Liu, James R Lupski, Albert Beckers and Constantine A Stratakis

OR03-4

Regulation of Mkrn3 Expression By Sex Steroids
Ana Paula Abreu, Victor M. Navarro, Aysegul Eren, Joy N. Liang, John C Gill, Sekoni D. Noel, Iain Robert Thompson, Stephanie A. Roberts, Rona S. Carroll, Ana Claudia Latronico and Ursula B. Kaiser

OR03-5

Histone Methyltransferases Ezh1 and 2 Are Required for Normal Skeletal Growth
Julian Lui, Kevin Barnes, Presley Garrison, Abigail Paulson, Vijay Shimoga, Ola Nilsson and Jeffrey Baron

OR03-6

Adipogenesis, mTOR and AMPK Pathways Link the Growth and Metabolic Actions of Growth Hormone Action in Children with GH Deficiency (GHD)
Adam Stevens, Chiara De Leonibus, Philip Murray, Ekaterina B Koledova, Pierre Chatelain and Peter Clayton