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
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
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM1_ESM.xlsx › Sheet2
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.
Li G et al.
Bmc Medical Genomics, 2021
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
SOFT syndrome in a patient from Chile.
Saida K et al.
American Journal of Medical Genetics. Part A, 2019
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