Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Autor: Veronica Mericq, Isabel Huang-Doran, Dhekra Al-Naqeb, Javiera Basaure, Claudia Castiglioni, Christiaan de Bruin, Yvonne Hendriks, Enrico Bertini, Fowzan S Alkuraya, Monique Losekoot, Khalid Al-Rubeaan, Robert K Semple, Jan M Wit

Publikováno v: Mericq, V, Huang-Doran, I, Al-naqeb, D, Basaure, J, Castiglioni, C, De Bruin, C, Hendriks, Y, Bertini, E, Alkuraya, F S, Losekoot, M, Al-rubeaan, K, Semple, R K & Wit, J M 2022, ' Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps ', European Journal of Endocrinology . https://doi.org/10.1530/EJE-21-0609
European journal of endocrinology, 186(5), 543-552. BIOSCIENTIFICA LTD

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c16bb600be972df5b2306e7d1e4b20b7
https://pubmed.ncbi.nlm.nih.gov/35234134

Enfrentamiento clínico de la talla baja

Autor: Javiera Basaure

Publikováno v: Medwave. 9

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::679421dacac6c8e9a6b2d6ceb691ed4c
https://doi.org/10.5867/medwave.2009.02.3797