Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations

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dc.contributor.authorKaradeniz, N.
dc.contributor.authorErkek, E.
dc.contributor.authorTaner, P.
dc.date.accessioned2020-06-25T17:48:08Z
dc.date.available2020-06-25T17:48:08Z
dc.date.issued2009
dc.departmentKırıkkale Üniversitesi
dc.description.abstractWe report familial segregation of hereditary total leuconychia (HTL) with ptosis and restriction of ocular motility due to congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in three generations. In this family, 4 people have HTL and ptosis, and there is restriction of ocular motility due to CFEOM1 in 10 members of the family. To our knowledge, this is the first description of familial segregation of CFEOM1 and HTL, and the second report of unexpected clinical involvement of CFEOM1. We suggest that CFEOM1 is not an isolated phenomenon in these cases. These phenotypes provide valuable insight into the function of the gene(s) localized to 12q13, giving a new perspective on the clinical component of molecular dysmorphology, but this requires further clarification.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1111/j.1365-2230.2009.03246.x
dc.identifier.endpageE572en_US
dc.identifier.issn0307-6938
dc.identifier.issn1365-2230
dc.identifier.issue8en_US
dc.identifier.pmid19489868
dc.identifier.scopus2-s2.0-72549099165
dc.identifier.scopusqualityQ2
dc.identifier.startpageE570en_US
dc.identifier.urihttps://doi.org/10.1111/j.1365-2230.2009.03246.x
dc.identifier.urihttps://hdl.handle.net/20.500.12587/4320
dc.identifier.volume34en_US
dc.identifier.wosWOS:000272526800043
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley-Blackwellen_US
dc.relation.ispartofClinical And Experimental Dermatology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleUnexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generationsen_US
dc.typeArticle

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