Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-Ruvalcaba Syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in...

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Autores principales: Soysal, Y, Acun, T, Lourenço, CM, Marques, W, Yakıcıer, MC
Formato: Artigo
Lenguaje:Inglês
Publicado: Macedonian Science of Sciences and Arts 2012
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3776656/
https://ncbi.nlm.nih.gov/pubmed/24052722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/v10034-012-0007-x
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