Article
Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.
Hormone research in paediatrics - 1 Jan 2017
Al-Ashwal Abdullah A, Al-Sagheir Afaf, Ramzan Khushnooda, Al-Owain Mohammed, Allam Rabab, Qari Alya, Al-Numair Nouf S, Imtiaz Faiqa
Abstract excerpt
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort....
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