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
Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.
Perge K et al.
Reviews in Endocrine & Metabolic Disorders, 2024
39017987 (PubMed )
Supplement: 11154_2024_9894_MOESM1_ESM.xlsx › Tabelle1
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K et al.
European Journal of Endocrinology, 2024
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V et al.
European Journal of Endocrinology, 2022
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.
Li G et al.
Bmc Medical Genomics, 2021
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Majore S et al.
Clinical Genetics, 2021
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