Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

Autor: Merih Berberoğlu, Régis Coutant, Şenay Savaş Erdeve, Cécile Brachet, Caroline Thalassinos, Frédéric Brioude, Michel Polak, Erdal Kurnaz, Sabrina Belkacem, Claudine Heinrichs, Aude Soleyan, Zeynep Şıklar, Nathalie Collot, Philippe Chanson, Jean-Claude Carel, Zehra Aycan, Marie-Laure Sobrier, Serge Amselem, Géraldine Viot, Noureddine Kaffel, Stanislas Lyonnet, Philippe Duquesnoy, Eliane Khallouf, Marie Legendre, Enzo Cohen, Soumeya Fedala, Sophie Rose, Florence Dastot, Frédérique Gatelais

Publikováno v: Human Mutation
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩

International audience; Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013fc4132e589725e8cbefc8344e1c72
https://www.hal.inserm.fr/inserm-03712902/document