Article
POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
Pituitary - 1 Oct 2021
Jadhav Swati, Diwaker Chakra, Lila Anurag R, Gada Jugal V, Kale Shantanu, Sarathi Vijaya, Thadani Puja M, Arya Sneha, Patil Virendra A, Shah Nalini S, Bandgar Tushar R
Abstract excerpt
CONTEXT: POU1F1 mutations are prevalent in Indian CPHD cohorts. Genotype-phenotype correlation is not well-studied. AIM: To describe phenotypic and genotypic spectrum of POU1F1 mutations in our CPHD cohort and present systematic review as well as genotype-phenotype analysis of all mutation-positive cases reported in world literature. METHODS: Retrospective study of POU1F1 mutation-positive patients from a...
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