Molecular Mechanisms of Pediatric Endocrine Disorders

OR29-1

rTMS as a Treatment Strategy for Growth Retardation in a Mouse Model of RASopathies
Caitlin Malone, Francesco Boato, Mariel Voutounou, Panagiotis Athanasopoulos and Jian Zhong

OR29-2

Mkrn3 Accelerates Puberty Onset in Mice
Lydie Naule, Ana Paula Abreu, Han Kyeol Kim, Joy N. Liang, Rona S. Carroll and Ursula B Kaiser

OR29-3

Paternally Inherited DLK1 deletion As a Novel Cause of Familial Central Precocious Puberty
Andrew Dauber, Marina Cunha-Silva, Delanie Delanie Bulcao Macedo, Vinicius N. Brito, Ana Paula Abreu, Stephanie A. Roberts, Luciana Ribeiro Montenegro, Melissa Andrew, Andrew Kirby, Matthew Weirauch, Guillaume Labilloy, Danielle de Souza Bessa, Rona S. Carroll, Dakota Clinton Jacobs, Patrick Everett Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser and Ana Claudia Latronico

OR29-4

Identification of SMCHD1 Mutations in a Severe Form of Kallmann Syndrome (KS) with Absence of the Nose (arhinia) Attests to the Power of Extreme Phenotypes in Human Reproductive Gene Discovery
Natalie D Shaw, Harrison Brand, Zachary Zupchinsky, Hemant Bengani, Lacey C Plummer, Serkan Erdin, Kathleen Williamson, Alexei Stortchevoi, Benjamin Currall, Jason Willer, Malik Nassan, Shelagh Joss, Jill Clayton Smith, Margaret Flynn Lippincott, Sylvia Singh, Nirav Patel, Jenny Jing, Jennifer Rachel Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Beatrice Tryggestad, Steven D. Chernausek, Lisa Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Ravikumar Balasubramanian, Tatiana Pineda Buitrago, Chie-Hee Cho, Jose E Garcia-Ortiz, Jodi D Hoffman, Bart Loeys, Richard R Meehan, Wolfgang Muhlbauer, Klaus W Ruprecht, Masato Shino, Orlando Perez Silva, Angela M Kaindl, Stephanie Beth Seminara, Janet E. Hall, Veronica van Heynengen, Koh-ichiro Yoshiura, Angela Lin, John M Graham Jr., Nikko Katsanis, David R FitzPatrick, William F Crowley Jr., Erica Davis and Michael E Talkowski

OR29-5

Identification of rs6161, Previously Designated a Benign CYP11A1 variant, As a Recurrent, Pathogenic Splicing Mutation Causing Primary Adrenal Insufficiency
Avinaash Maharaj, Federica Buonocore, Eirini Meimaridou, Rathi Prasad, Elizabeth C Crowne, Tim D. Cheetham, Caroline Elizabeth Brain, Ewan Gray, Jenifer P Suntharalingham, Niccolò Striglioni, Richard J. Auchus, Helen Alexandra Spoudeas, Malcolm Donaldson, John C Achermann and Louise A Metherell

OR29-6

SGPL1 Mutations Cause Primary Adrenal Insufficiency and Steroid Resistant Nephrotic Syndrome
Louise A Metherell, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, GOS Gene, Ruth Krone, Bulent Hacihamdioglu, Erkan Sarı, Ediz Yesilkaya, Helen Louise Storr, Maria Clemente, Mónica Fernández-Cancio, Nuria Camats, Nanik Ram, John C Achermann, Paul van Veldhoven, Leonardo Guasti, Débora Braslavsky, Tulay Guran and Rathi Prasad