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
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
Li X et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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