Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Sun Hwa | - |
dc.contributor.author | Ryoo, Eell | - |
dc.contributor.author | Tchah, Hann | - |
dc.date.available | 2020-02-27T19:43:17Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2017-03 | - |
dc.identifier.issn | 2234-8646 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/6384 | - |
dc.description.abstract | Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | KOREAN SOC PEDIATRIC GASTROENTEROLOGY & NUTRITION | - |
dc.relation.isPartOf | PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION | - |
dc.subject | SPECTRUM | - |
dc.title | Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000407722700010 | - |
dc.identifier.doi | 10.5223/pghn.2017.20.1.65 | - |
dc.identifier.bibliographicCitation | PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION, v.20, no.1, pp.65 - 70 | - |
dc.identifier.kciid | ART002206654 | - |
dc.identifier.scopusid | 2-s2.0-85017638211 | - |
dc.citation.endPage | 70 | - |
dc.citation.startPage | 65 | - |
dc.citation.title | PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION | - |
dc.citation.volume | 20 | - |
dc.citation.number | 1 | - |
dc.contributor.affiliatedAuthor | Lee, Sun Hwa | - |
dc.contributor.affiliatedAuthor | Ryoo, Eell | - |
dc.contributor.affiliatedAuthor | Tchah, Hann | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Bannayan-Riley-Ruvalcaba syndrome | - |
dc.subject.keywordAuthor | Microarray analysis | - |
dc.subject.keywordPlus | SPECTRUM | - |
dc.relation.journalResearchArea | Pediatrics | - |
dc.relation.journalWebOfScienceCategory | Pediatrics | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.