Intronic variant in POU1F1 associated with canine pituitary dwarfism

K Kyostila, Niskanen JE,M Arumilli,J Donner, Hytonen MK,H Lohi

Yearbook of pediatric endocrinology（2022）

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Abstract

Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.

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Key words

intronic variant,canine

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