The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes

by Evgenia Globa, Nataliya Zelinska, Andrew Dauber
Published 2018-01-01

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

by Şükran Poyrazoğlu, Vivian Hwa, Firdevs Baş, Andrew Dauber, Ron Rosenfeld, Feyza Darendeliler
Published 2019-12-01

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

by Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Published 2019-11-01

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

by Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa
Published 2018-05-01

Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.

by Yingleong Chan, Oddgeir L Holmen, Andrew Dauber, Lars Vatten, Aki S Havulinna, Frank Skorpen, Kirsti Kvaløy, Kaisa Silander, Thutrang T Nguyen, Cristen Willer, Michael Boehnke, Markus Perola, Aarno Palotie, Veikko Salomaa, Kristian Hveem, Timothy M Frayling, Joel N Hirschhorn, Michael N Weedon
Published 2011-12-01

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

by Zhuo Huang, Yu Sun, Yanjie Fan, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Hui Yan, Yu Wang, Guorui Hu, Ruifang Wang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Yu Yang, Andrew Dauber, Yongguo Yu, Xue-Fan Gu
Published 2018-08-01