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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Clinical Study
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

Internet

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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