Associated Papers
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
Altunoglu U et al.
Clinical Genetics, 2025
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Majore S et al.
Clinical Genetics, 2021
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F et al.
Human Genetics, 2020
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.
Giorgio E et al.
European Journal of Endocrinology, 2017
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