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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Orrego-González, Eduardo, Martin-Restrepo, Carlos, Velez-Van-Meerbeke, Alberto
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2021
Gaiak:
Sarrera elektronikoa: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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