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Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family

dc.contributor.authorJavaid, Amara
dc.contributor.authorNishat, Sumaira
dc.contributor.authorIsmail, Muhammad
dc.contributor.authorMansoor, Qaisar
dc.date.accessioned2022-02-18T10:21:23Z
dc.date.available2022-02-18T10:21:23Z
dc.date.issued2012
dc.identifier.citationNishat S., Mansoor Q., Javaid A., Ismail M., "Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family", JOURNAL OF DERMATOLOGICAL CASE REPORTS, cilt.6, sa.2, ss.43-48, 2012
dc.identifier.otherav_93be3154-48e7-485a-8644-5c6672ef676a
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/179072
dc.identifier.urihttps://doi.org/10.3315/jdcr.2012.1094
dc.description.abstractBackground: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein a 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis.
dc.language.isoeng
dc.subjectKlinik Tıp
dc.subjectDERMATOLOJİ
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectDermatoloji
dc.subjectDermatology
dc.subjectHealth Sciences
dc.titleOculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family
dc.typeMakale
dc.relation.journalJOURNAL OF DERMATOLOGICAL CASE REPORTS
dc.contributor.departmentIBGE , ,
dc.identifier.volume6
dc.identifier.issue2
dc.identifier.startpage43
dc.identifier.endpage48
dc.contributor.firstauthorID3379602


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