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Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare autosomal dominant disorder with an unknown prevalence. Characteristics of this disease include cutaneous, neurologic, and cardiologic abnormalities. In this case report, we present a 12-year-old girl wh...

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Publicado en:Mol Syndromol
Autores principales: Orrego-González, Eduardo, Martin-Restrepo, Carlos, Velez-Van-Meerbeke, Alberto
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2021
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7983560/
https://ncbi.nlm.nih.gov/pubmed/33776629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000512374
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