Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

@article{Alatzoglou2009ExpandingTS,
  title={Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.},
  author={Kyriaki Sandy Alatzoglou and James P G Turton and Daniel Kelberman and Peter E Clayton and Ameeta Mehta and Charles R. Buchanan and Simon J. B. Aylwin and Elisabeth C Crowne and Henrik T Christesen and Niels Thomas Hertel and Peter Trainer and Martin O. Savage and Jamal Raza and Kausik Banerjee and Sunil K. Sinha and Svetlana B Ten and Talat Mushtaq and Raja Brauner and Timothy D. Cheetham and Peter Christopher Hindmarsh and Primus E. Mullis and Mehul T Dattani},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2009},
  volume={94 9},
  pages={3191-9}
}
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 for mutations in GH1 and GHRHR. To explore the possibility of an association of GH1… CONTINUE READING