Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

Autor:	Dominique Bonneau, Michel Longy, Valérie Coulon, Larrègue M, Albert David, Armand Bottani, Patrizia Amati, Didier Lacombe, Jean Louis Kraimps, Charis Eng, Bernadette Duboué
Jazyk:	angličtina
Rok vydání:	1998
Předmět:	Adult Male Pathology medicine.medical_specialty Adolescent Locus (genetics) Hamartomatous Polyp Bannayan–Riley–Ruvalcaba syndrome Neoplastic Syndromes Hereditary Genetics medicine PTEN Hamartoma Humans Genes Tumor Suppressor Allele Child Genetics (clinical) biology Tumor Suppressor Proteins Macrocephaly PTEN Phosphohydrolase Cowden syndrome Exons Syndrome Middle Aged medicine.disease Phosphoric Monoester Hydrolases Pedigree stomatognathic diseases Phenotype Mutation biology.protein Female medicine.symptom Hamartoma Syndrome Multiple Pigmentation Disorders Research Article
Zdroj:	Scopus-Elsevier
Popis:	We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6c99f5035bb400f7a4eb14ffdcd760 https://europepmc.org/articles/PMC1051478/ Zobrazit plný text záznamu