Chargement en cours...
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...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Macedonian Science of Sciences and Arts
2012
|
| Sujets: | |
| Accès en ligne: | 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 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|