Cleidocranial dysplasia in a mother and her two children

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dc.authoridMundlos, Stefan/0000-0002-9788-3166
dc.authorwosidCakir, Necati/AAG-7283-2019
dc.authorwosidMundlos, Stefan/ABH-9585-2020
dc.contributor.authorPamuk, Oemer Nuri
dc.contributor.authorMundlos, Stefan
dc.contributor.authorCakir, Necati
dc.date.accessioned2024-06-12T10:56:37Z
dc.date.available2024-06-12T10:56:37Z
dc.date.issued2008
dc.departmentTrakya Üniversitesien_US
dc.description.abstractCleidocranial dysplasia (CCD) is an autosomal dominant disease characterized by skeletal abnormalities which is secondary to haploinsufficiency of the transcription factor Runx2 that plays a role in osteoblast differentiation. In this report, we present a female patient who came to our Rheumatology outpatient clinic with widespread pain, who was diagnosed with fibromyalgia (FM), and who was investigated because of her phenotypic features together with her two children; and consequently, diagnosed with CCD. The diagnosis of CCD was confirmed with genetic analysis. The patient whose alkaline phosphatase was low had no osteoporosis oil DEXA. It is unclear whether CCD has or does not have a causal relationship with widespread pain. (C) 2008 Elsevier Masson SAS. All rights reserved.en_US
dc.identifier.doi10.1016/j.jbspin.2007.10.013
dc.identifier.endpage727en_US
dc.identifier.issn1297-319X
dc.identifier.issn1778-7254
dc.identifier.issue6en_US
dc.identifier.pmid18818114en_US
dc.identifier.scopus2-s2.0-57049162442en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage725en_US
dc.identifier.urihttps://doi.org/10.1016/j.jbspin.2007.10.013
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19864
dc.identifier.volume75en_US
dc.identifier.wosWOS:000261902500020en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier France-Editions Scientifiques Medicales Elsevieren_US
dc.relation.ispartofJoint Bone Spineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCleidocranial Dysplasiaen_US
dc.subjectChronic Widespread Painen_US
dc.subjectRunx2en_US
dc.subjectHypophosphatasiaen_US
dc.subjectMutationsen_US
dc.subjectCbfa1en_US
dc.subjectGeneen_US
dc.titleCleidocranial dysplasia in a mother and her two childrenen_US
dc.typeArticleen_US

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