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dc.contributor.authorMalik, S
dc.contributor.authorPercin, FE
dc.contributor.authorAhmad, W
dc.contributor.authorPercin, S
dc.contributor.authorAkarsu, NA
dc.contributor.authorKoch, MC
dc.contributor.authorGrzeschik, KH
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T10:22:08Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T10:22:08Z
dc.date.issued2005
dc.identifier.issn1552-4825
dc.identifier.urihttps://dx.doi.org/10.1002/ajmg.a.30656
dc.identifier.urihttps://hdl.handle.net/20.500.12418/11005
dc.descriptionWOS: 000228758400010en_US
dc.descriptionPubMed ID: 15779011en_US
dc.description.abstractPreviously we have described a novel and distinct form of non-syndromic osseous syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani family. The limb findings include mesoaxial reduction of the fingers, synostoses of the third and fourth metacarpals with associated single phalanges, fifth finger clinodactyly, and preaxial webbing of toes. We identified another published report of this phenotype in a large, inbred Turkish family. In the present study we mapped the phenotype in the Pakistani and Turkish families to chromosome 17p13.3 (multipoint LOD score 5.1). The identification of a single locus for this complex limb malformation in two families with distinct ethnic backgrounds supports the hypothesis that this is a distinct form of syndactyly. Since this form of syndactyly is phenotypically distinct from the previously described eight types, we propose to name this phenotype (m) under bar esoaxial (s) under bar yostotic (s) under bar yndactyly with phalangeal reduction (MSSD, type IX syndactyly, Malik-Percin type). (c) 2005 Wiley-Liss, Inc.en_US
dc.language.isoengen_US
dc.publisherWILEY-LISSen_US
dc.relation.isversionof10.1002/ajmg.a.30656en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectautosomal recessive syndactylyen_US
dc.subjectmesoaxial synostosisen_US
dc.subject17p13.3en_US
dc.subjectlinkage analysisen_US
dc.subjectsyndactyly type IX Malik-Percin typeen_US
dc.titleAutosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3en_US
dc.typearticleen_US
dc.relation.journalAMERICAN JOURNAL OF MEDICAL GENETICS PART Aen_US
dc.contributor.departmentUniv Marburg, Zentrum Humangenet, D-35037 Marburg, Germany -- Quaid I Azam Univ, Dept Biol Sci, Islamabad, Pakistan -- Gazi Univ, Fac Med, Dept Med Genet, Ankara, Turkey -- Cumhuriyet Univ, Fac Med, Dept Orthopaed & Traumatol, Sivas, Turkey -- Hecettepe Univ, Fac Med, Gene Mapping Lab, Pediat Hematol Unit,Dept Pediat, Ankara, Turkey -- Cumhuriyet Univ, Fac Med, Dept Med Biol & Genet, Sivas, Turkeyen_US
dc.contributor.authorIDMalik, Sajid -- 0000-0001-5563-9053; Percin, Ferda -- 0000-0001-9317-8155; Akarsu, Nurten -- 0000-0001-5432-0032;en_US
dc.identifier.volume134Aen_US
dc.identifier.issue4en_US
dc.identifier.endpage408en_US
dc.identifier.startpage404en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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