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Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps
OBJECTIVE: To describe clinical, laboratory, and genetic characteristics of three unrelated cases from Chile, Portugal, and Saudi Arabia with severe insulin resistance, SOFT syndrome, and biallelic pathogenic POC1A variants. DESIGN: Observational study. METHODS: Probands’ phenotypes, including short...
Autores principales: | Mericq, Veronica, Huang-Doran, Isabel, Al-Naqeb, Dhekra, Basaure, Javiera, Castiglioni, Claudia, de Bruin, Christiaan, Hendriks, Yvonne, Bertini, Enrico, Alkuraya, Fowzan S, Losekoot, Monique, Al-Rubeaan, Khalid, Semple, Robert K, Wit, Jan M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010808/ https://www.ncbi.nlm.nih.gov/pubmed/35234134 http://dx.doi.org/10.1530/EJE-21-0609 |
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