A novel L1CAM mutation with L1 spectrum disorders

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dc.authorid0000-0003-3875-9955en_US
dc.authorid0000-0001-7191-2240
dc.contributor.authorSılan, Fatma
dc.contributor.authorÖzdemir, İsmail
dc.contributor.authorLissens, Willy
dc.date.accessioned2021-06-23T19:18:42Z
dc.date.available2021-06-23T19:18:42Z
dc.date.issued2005
dc.departmentBAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.description.abstractX-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers.en_US
dc.identifier.doi10.1002/pd.978
dc.identifier.endpage59en_US
dc.identifier.issn0197-3851
dc.identifier.issue1en_US
dc.identifier.pmid15662685en_US
dc.identifier.scopus2-s2.0-13244268632en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage57en_US
dc.identifier.urihttps://doi.org/10.1002/pd.978
dc.identifier.urihttps://hdl.handle.net/20.500.12491/5790
dc.identifier.volume25en_US
dc.identifier.wosWOS:000226731500013en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÖzdemir, İsmail
dc.institutionauthorSılan, Fatma
dc.language.isoenen_US
dc.publisherJohn Wiley & Sons Ltden_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCorpus Callosum Hypoplasiaen_US
dc.subjectL1CAMen_US
dc.subjectL1 Spectrumen_US
dc.subjectPrenatal Diagnosisen_US
dc.subjectX-linked Hydrocephalusen_US
dc.titleA novel L1CAM mutation with L1 spectrum disordersen_US
dc.typeArticleen_US

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