Article
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Sept 2009
Alatzoglou Kyriaki S, Turton James P, Kelberman Daniel, Clayton Peter E, Mehta Ameeta, Buchanan Charles, Aylwin Simon, Crowne Elisabeth C, Christesen Henrik T, Hertel Niels T, Trainer Peter J, Savage Martin O, Raza Jamal, Banerjee Kausik, Sinha Sunil K, Ten Svetlana, Mushtaq Talat, Brauner Raja, Cheetham Timothy D, Hindmarsh Peter C, Mullis Primus E, Dattani Mehul T
Abstract excerpt
CONTEXT: It is estimated that 3-30% of cases with isolated GH deficiency (IGHD) have a genetic etiology, with a number of mutations being reported in GH1 and GHRHR. The aim of our study was to genetically characterize a cohort of patients with congenital IGHD and analyze their characteristics. PATIENTS AND METHODS: A total of 224 patients (190 pedigrees) with IGHD and a eutopic posterior pituitary were screened...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.