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Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

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作者单位: Department of Clinical Medicine, Hospital Universitário de Santa Maria (HUSM), Santa Maria, Rio Grande do Sul, Brazil. [1] Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil. [2] Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil. [3] National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil. [4] Graduate in Biological Sciences, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil. [5] Research and Development, Grupo Fleury, São Paulo, São Paulo, Brazil. [6] Serviço de Genética Médica, Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil. [7] Genetic Unit, Pediatric Department, HC-FMUSP, São Paulo University, São Paulo, São Paulo, Brazil. [8] Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Recife, Pernambuco, Brazil. [9] Neuropediatric Division, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil. [10] State University of Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil. [11] Medical Genetics Department, National Institute of Women, Children and Adolescents Health Fernandes Figueira-Fiocruz/Reference Center for Rare Diseases, Rio de Janeiro, Rio de Janeiro, Brazil. [12] Unidade Acadêmica de Medicina, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil. [13] Hospital Universitário Maria Aparecida Pedrossian (HUMAP), UFMS, Campo Grande, Mato Grosso do Sul, Brazil. [14] Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brazil. [15] Laboratory of Innate Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil. [16] Department of Pediatrics, Faculty of Medicine, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil. [17] Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil. [18]
DOI 10.1002/ajmg.c.31915
PMID 33960103
发布时间 2022-04-11
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American journal of medical genetics. Part C, Seminars in medical genetics

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