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dc.contributor.authorSoysal, Y.en_US
dc.contributor.authorAcun, T.en_US
dc.contributor.authorLourenço, C.M.en_US
dc.contributor.authorMarques Jr. W.en_US
dc.contributor.authorYakicier, M.C.en_US
dc.date.accessioned2016-02-08T09:49:17Z
dc.date.available2016-02-08T09:49:17Z
dc.date.issued2012en_US
dc.identifier.issn13110160
dc.identifier.urihttp://hdl.handle.net/11693/21650
dc.description.abstractBannayan-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 a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care.en_US
dc.language.isoEnglishen_US
dc.source.titleBalkan Journal of Medical Geneticsen_US
dc.relation.isversionof10.2478/v10034-012-0007-xen_US
dc.subjectBannayan - Riley - Ruvalcaba Syndrome (BRRS)en_US
dc.subjectHemangiomaen_US
dc.subjectMacrocephalyen_US
dc.subjectPTEN geneen_US
dc.subjectVascular anomaliesen_US
dc.subjectDNAen_US
dc.subjectphosphatidylinositol 3,4,5 trisphosphate 3 phosphataseen_US
dc.subjectangiolipomaen_US
dc.subjectangiomyolipomaen_US
dc.subjectarteriovenous malformationen_US
dc.subjectarticleen_US
dc.subjectautosomal disorderen_US
dc.subjectBannayan Riley Ruvalcaba syndromeen_US
dc.subjectcase reporten_US
dc.subjectchilden_US
dc.subjectcodonen_US
dc.subjectcolonoscopyen_US
dc.subjectcongenital blood vessel malformationen_US
dc.subjectDNA sequenceen_US
dc.subjectelectroencephalogramen_US
dc.subjectelectromyographyen_US
dc.subjectexcisionen_US
dc.subjectexonen_US
dc.subjectface dysmorphiaen_US
dc.subjectfacial nerve paralysisen_US
dc.subjectfemaleen_US
dc.subjectfluctuating asymmetryen_US
dc.subjectgait disorderen_US
dc.subjectgene mutationen_US
dc.subjectgenotype phenotype correlationen_US
dc.subjecthamartomaen_US
dc.subjecthemangiomatosisen_US
dc.subjecthistopathologyen_US
dc.subjecthumanen_US
dc.subjecthuman tissueen_US
dc.subjectleg amputationen_US
dc.subjectleg painen_US
dc.subjectmacrocephalyen_US
dc.subjectmedical historyen_US
dc.subjectmuscle atrophyen_US
dc.subjectmuscle hemangiomatosisen_US
dc.subjectmutational analysisen_US
dc.subjectmyopathyen_US
dc.subjectneuroimagingen_US
dc.subjectneurologic examinationen_US
dc.subjectnonsense mutationen_US
dc.subjectnuclear magnetic resonance imagingen_US
dc.subjectrecurrent diseaseen_US
dc.subjectschool childen_US
dc.subjectseizureen_US
dc.subjectverruca vulgarisen_US
dc.titleMuscle Hemangiomatosis presenting as a severe feature in a patient with the pten mutation: Expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndromeen_US
dc.typeArticleen_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.citation.spage45en_US
dc.citation.epage50en_US
dc.citation.volumeNumber15en_US
dc.citation.issueNumber1en_US
dc.identifier.doi10.2478/v10034-012-0007-xen_US


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