Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

• Main Authors: Stefania Moia (Author), Daniele Tessaris (Author), Silvia Einaudi (Author), Luisa de Sanctis (Author), Gianni Bona (Author), Simonetta Bellone (Author), Flavia Prodam (Author)
• 格式: 图书
• 出版: BMC, 2017-10-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Abstract Background Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels,...