1. Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient
   Dongfeng Li et al, 2023, Frontiers in Genetics CrossRef
2. SOFT syndrome with Kohlschutter–Tonz syndrome
   SA Mondkar et al, 2023, Journal of Postgraduate Medicine CrossRef
3. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling
   Kevin Perge et al, 2024, European Journal of Endocrinology CrossRef
4. Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes
   Umut Altunoglu et al, 2024, Clinical Genetics CrossRef
5. Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome
   Kevin Perge et al, 2024, Reviews in Endocrine and Metabolic Disorders CrossRef