Article
Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.
Pituitary - 1 Dec 2020
Kale Shantanu, Gada Jugal V, Jadhav Swati, Lila Anurag R, Sarathi Vijaya, Budyal Sweta, Patt Hiren, Goroshi Manjunath R, Thadani Puja M, Arya Sneha, Kamble Aparna A, Patil Virendra A, Acharya Shrikrishna, Sankhe Shilpa, Shivane Vyankatesh, Raghavan Vijaya, Bandgar Tushar R, Shah Nalini S
Abstract excerpt
CONTEXT: Regional variation in prevalence of genetic mutations in growth hormone deficiency (GHD) is known. AIM: Study phenotype and prevalence of mutations in GH1, GHRHR, POU1F1, PROP1 genes in GHD cohort. METHODS: One hundred and two patients {Isolated GHD (IGHD): 79; combined pituitary hormone deficiency (CPHD): 23} with orthotopic posterior pituitary were included. Auxologic, hormonal and radiological details...
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