ESPE Yearbook of Paediatric Endocrinology

Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.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.</...