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...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2023-07-01
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| Schriftenreihe: | BMC Pediatrics |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12887-023-04166-z |
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