From the Genome to the Clinic: Growth and Puberty Disorders


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


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


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


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


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


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