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Fatal leukodystrophy in Costello syndrome: a case report
BACKGROUND: Costello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities, and a variable degree of intellectual disabilit...
Autores principales: | Failoc-Rojas, Virgilio E., Ugaz, Piero A. Quiroz, León, Dante A. Loconi, Zeña-Ñañez, Sandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364348/ https://www.ncbi.nlm.nih.gov/pubmed/37488489 http://dx.doi.org/10.1186/s12887-023-04166-z |
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