Somatic mosaicism is implicated in the etiology of XLAG syndrome

• Published in: Acta clinica belgica (English ed. Online) Vol. 71; no. S3; p. 9
• Main Authors: Liliya, Rostomyan, Adrian, F Daly, Bo, Yuan, Frederic, Fina, Jean-Hubert, Caberg, Giampaolo, Trivellin, de Herder, Wouter W, Naves, Luciana A, Metzger, Daniel, Cuny, Thomas, Rabl, Wolfgang, Shah, Nalini, Jaffrain-Rea, Marie-Lise, Zatelli, Maria Chiara, Faucz, Fabio R, Castermans, Emilie, Nanni-Metellus, Isabelle, Lodish, Maya, Muhammad, Ammar, Palmeira, Leonor, Potorac, Iulia, Mantovani, Giovanna, Neggers, Sebastian J, Klein, Marc, Barlier, Anne, Liu, Pengfei, Ouafik, L'Houcine, Bours, Vincent, Lupski, James R, Stratakis, Constantine A, Beckers, Albert
• Format: Journal Article
• Language: English
• Published: Ghent Taylor & Francis Ltd 01.05.2016
• Subjects: Females; Genes; Males

X-linked acrogigantism (X-LAG) syndrome is a newly described form of early onset inheritable pituitary gigantism caused by microduplications on chromosome Xq26.3 including the GPR101 gene. We explored the genomic pathophysiology of XLAG syndrome and studied XLAG, pituitary gigantism or acromegaly pa...