Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1 ‐related phenotype

Author:

Stockler‐Ipsiroglu Sylvia123ORCID,Yazdanpanah Nahid1,Yazdanpanah Mojgan1,Moisa Popurs Marioara12,Yuskiv Nataliya12,Schmitz Ferreira Santos Mara Lúcia4,Ae Kim Chong5,Fischinger Moura de Souza Carolina6,Marques Lourenço Charles7,Steiner Carlos Eduardo8,Federhen Andressa6,Giugliani Luciana6,Bastos Pereira Débora Maria6,Durán‐Carabali Luz Elena9,Giugliani Roberto610111213

Affiliation:

1. Department of Pediatrics University of British Columbia Vancouver Canada

2. Division of Biochemical Genetics BC Children's Hospital Vancouver Canada

3. BC Children's Hospital Research Institute Vancouver Canada

4. Hospital Infantil Pequeno Príncipe Curitiba Brazil

5. Instituto da Criança, Faculdade de Medicina, USP São Paulo Brazil

6. Serviço de Genética Médica, HCPA Porto Alegre Brazil

7. Faculdade de Medicina Centro Universitário Estácio Ribeirão Preto Brazil

8. Departamento de Genética Médica, Faculdade de Medicina UNICAMP Campinas Brazil

9. Programa de Pós‐Graduação em Ciências Biológicas: Fisiologia, UFRGS Porto Alegre Brazil

10. Departamento de Genética UFRGS Porto Alegre Brazil

11. Programa de Pós‐Graduação em Genética e Biologia Molecular, UFRGS Porto Alegre Brazil

12. INAGEMP Porto Alegre Brazil

13. DR BRASIL, HCPA Porto Alegre Brazil

Funder

Instituto Nacional de Genética Médica Populacional

University of British Columbia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

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