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dc.contributor.authorKane, Jennifer L.
dc.contributor.authorBerrebi, Kristen
dc.contributor.authorMcLean, Riley
dc.contributor.authorPetkiewicz, Stephanie
dc.contributor.authorHay, Beverly N.
dc.contributor.authorMartin, Madelena
dc.contributor.authorWiss, Karen
dc.date2022-08-11T08:10:13.000
dc.date.accessioned2022-08-23T16:59:30Z
dc.date.available2022-08-23T16:59:30Z
dc.date.issued2017-07-05
dc.date.submitted2017-08-28
dc.identifier.citationClin Case Rep. 2017 Jul; 5(7): 1152–1154. doi: 10.1002/ccr3.1011. <a href="https://doi.org/10.1002/ccr3.1011">Link to article on publisher's site</a>
dc.identifier.issn2050-0904 (Linking)
dc.identifier.doi10.1002/ccr3.1011
dc.identifier.pmid28680615
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43600
dc.description.abstractWe report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=28680615&dopt=Abstract">Link to Article in PubMed</a>
dc.rights© 2017 The Authors.
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectNoonan syndrome with loose anagen hair
dc.subjecttrichoptilosis
dc.subjecttrichorrhexis nodosa
dc.subjectDermatology
dc.subjectPediatrics
dc.subjectSkin and Connective Tissue Diseases
dc.titleNoonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
dc.typeJournal Article
dc.source.journaltitleClinical case reports
dc.source.volume5
dc.source.issue7
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1169&amp;context=peds_pp&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/peds_pp/170
dc.identifier.contextkey10667382
refterms.dateFOA2022-08-23T16:59:30Z
html.description.abstract<p>We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.</p>
dc.identifier.submissionpathpeds_pp/170
dc.contributor.departmentDepartment of Pediatrics
dc.contributor.departmentDepartment of Pathology
dc.contributor.departmentDepartment of Dermatology
dc.source.pages1152-1154


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© 2017 The Authors.
Except where otherwise noted, this item's license is described as © 2017 The Authors.