Browsing by Keywords "codon"
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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 (2012)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. ...