Fatal leukodystrophy in Costello syndrome: a case report

Fatal leukodystrophy in Costello syndrome: a case report

Abstract 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 d...

Full description

Bibliographic Details
Main Authors: Virgilio E. Failoc-Rojas, Piero A. Quiroz Ugaz, Dante A. Loconi León, Sandra Zeña-Ñañez
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Pediatrics
Subjects:
Costello syndrome
Infant
HRAS gene
Leukodystrophy
Multisystem involvement
Online Access:https://doi.org/10.1186/s12887-023-04166-z

Internet

https://doi.org/10.1186/s12887-023-04166-z

Similar Items