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...

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Detalles Bibliográficos
Autores principales: Failoc-Rojas, Virgilio E., Ugaz, Piero A. Quiroz, León, Dante A. Loconi, Zeña-Ñañez, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
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

Internet

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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