Cited 26 times in
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김수찬 | - |
dc.date.accessioned | 2015-06-10T11:53:06Z | - |
dc.date.available | 2015-06-10T11:53:06Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 0385-2407 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/108796 | - |
dc.description.abstract | Pachyonychia congenita type 2 (PC-2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 161~164 | - |
dc.relation.isPartOf | JOURNAL OF DERMATOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Ectodermal Dysplasia/genetics* | - |
dc.subject.MESH | Epidermal Cyst/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Keratins/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation/genetics | - |
dc.subject.MESH | Nails, Malformed/genetics* | - |
dc.subject.MESH | Sebaceous Gland Diseases/genetics* | - |
dc.subject.MESH | Tooth Abnormalities/genetics* | - |
dc.title | Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Dermatology (피부과학) | - |
dc.contributor.googleauthor | Se-Woong OH | - |
dc.contributor.googleauthor | Moon Young KIM | - |
dc.contributor.googleauthor | Jeong Sun LEE | - |
dc.contributor.googleauthor | Soo-Chan KIM | - |
dc.identifier.doi | 10.1111/j.1346-8138.2006.00037.x | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00637 | - |
dc.relation.journalcode | J01372 | - |
dc.identifier.eissn | 1346-8138 | - |
dc.identifier.pmid | 16620218 | - |
dc.identifier.url | http://onlinelibrary.wiley.com/doi/10.1111/j.1346-8138.2006.00037.x/abstract | - |
dc.subject.keyword | Hutchinson teeth | - |
dc.subject.keyword | keratin 17 mutation | - |
dc.subject.keyword | pachyonychia congenita type 2 | - |
dc.contributor.alternativeName | Kim, Soo Chan | - |
dc.contributor.affiliatedAuthor | Kim, Soo Chan | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 33 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 161 | - |
dc.citation.endPage | 164 | - |
dc.identifier.bibliographicCitation | JOURNAL OF DERMATOLOGY, Vol.33(3) : 161-164, 2006 | - |
dc.identifier.rimsid | 57708 | - |
dc.type.rims | ART | - |
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