dc.contributor.author | Malik, S | |
dc.contributor.author | Percin, FE | |
dc.contributor.author | Ahmad, W | |
dc.contributor.author | Percin, S | |
dc.contributor.author | Akarsu, NA | |
dc.contributor.author | Koch, MC | |
dc.contributor.author | Grzeschik, KH | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T10:22:08Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T10:22:08Z | |
dc.date.issued | 2005 | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.uri | https://dx.doi.org/10.1002/ajmg.a.30656 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/11005 | |
dc.description | WOS: 000228758400010 | en_US |
dc.description | PubMed ID: 15779011 | en_US |
dc.description.abstract | Previously 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.iso | eng | en_US |
dc.publisher | WILEY-LISS | en_US |
dc.relation.isversionof | 10.1002/ajmg.a.30656 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | autosomal recessive syndactyly | en_US |
dc.subject | mesoaxial synostosis | en_US |
dc.subject | 17p13.3 | en_US |
dc.subject | linkage analysis | en_US |
dc.subject | syndactyly type IX Malik-Percin type | en_US |
dc.title | Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3 | en_US |
dc.type | article | en_US |
dc.relation.journal | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | en_US |
dc.contributor.department | Univ 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, Turkey | en_US |
dc.contributor.authorID | Malik, Sajid -- 0000-0001-5563-9053; Percin, Ferda -- 0000-0001-9317-8155; Akarsu, Nurten -- 0000-0001-5432-0032; | en_US |
dc.identifier.volume | 134A | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.endpage | 408 | en_US |
dc.identifier.startpage | 404 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |