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
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K et al.
European Journal of Endocrinology, 2024
Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report.
Li S et al.
Molecular Medicine Reports, 2021
33955509 (PubMed )
Supplement: Supplementary_Data.pdf
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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