Coexistence of rare genetic disorders in a consanguineous family: case study of KLHL24-related hypertrophic cardiomyopathy and Char Syndrome (2025)
- Authors:
- Autor USP: KRIEGER, JOSE EDUARDO - FM
- Unidade: FM
- DOI: 10.1159/000540786
- Subjects: DOENÇAS RARAS; MIOCARDIOPATIA CONGESTIVA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Molecular Syndromology
- ISSN: 1661-8769
- Volume/Número/Paginação/Ano: v. 16, n. 2, p. 194-200, 2025
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
LINNENKAMP, Bianca Domit Werner et al. Coexistence of rare genetic disorders in a consanguineous family: case study of KLHL24-related hypertrophic cardiomyopathy and Char Syndrome. Molecular Syndromology, v. 16, n. 2, p. 194-200, 2025Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/87118. Acesso em: 27 jan. 2026. -
APA
Linnenkamp, B. D. W., Pires, L. V. L., Stephan, B. de O., Vilalva, K. H., Carvalho, M. L. P. de, Lipari, L. F. V. P., et al. (2025). Coexistence of rare genetic disorders in a consanguineous family: case study of KLHL24-related hypertrophic cardiomyopathy and Char Syndrome. Molecular Syndromology, 16( 2), 194-200. doi:10.1159/000540786 -
NLM
Linnenkamp BDW, Pires LVL, Stephan B de O, Vilalva KH, Carvalho MLP de, Lipari LFVP, Fernandes F, Krieger JE. Coexistence of rare genetic disorders in a consanguineous family: case study of KLHL24-related hypertrophic cardiomyopathy and Char Syndrome [Internet]. Molecular Syndromology. 2025 ; 16( 2): 194-200.[citado 2026 jan. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/87118 -
Vancouver
Linnenkamp BDW, Pires LVL, Stephan B de O, Vilalva KH, Carvalho MLP de, Lipari LFVP, Fernandes F, Krieger JE. Coexistence of rare genetic disorders in a consanguineous family: case study of KLHL24-related hypertrophic cardiomyopathy and Char Syndrome [Internet]. Molecular Syndromology. 2025 ; 16( 2): 194-200.[citado 2026 jan. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/87118 - Insuficiência das variantes gênicas do fator de necrose tumoral alfa na evolução de doentes com insuficiência cardíaca
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Informações sobre o DOI: 10.1159/000540786 (Fonte: oaDOI API)
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