dc.contributor.author | Percin, EF | |
dc.contributor.author | Percin, S | |
dc.contributor.author | Egilmez, H | |
dc.contributor.author | Sezgin, I | |
dc.contributor.author | Ozbas, F | |
dc.contributor.author | Akarsu, AN | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T10:26:12Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T10:26:12Z | |
dc.date.issued | 1998 | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.uri | https://dx.doi.org/10.1136/jmg.35.10.868 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/11799 | |
dc.description | WOS: 000076186800017 | en_US |
dc.description | PubMed ID: 9783716 | en_US |
dc.description.abstract | Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the third and fourth fingers; (2) severe bone reduction in the proximal phalanges of the same fingers; (3) hypoplasia of the thumbs and halluces; (4) aplasia/hypoplasia of the middle phalanges of the second and fifth fingers; and (5) complete or partial soft tissue syndactyly of the toes. We report on three offspring with this phenotype from two different branches of a syndactyly type I family, suggesting that they may be homozygous for this condition. SSCP and linkage analysis indicated that neither HOXD13 nor other relevant genes in the chromosome 2q31 region was responsible for this phenotype. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | BRITISH MED JOURNAL PUBL GROUP | en_US |
dc.relation.isversionof | 10.1136/jmg.35.10.868 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | syndactyly type I | en_US |
dc.subject | HOXD13 | en_US |
dc.subject | chromosome 2q31 | en_US |
dc.subject | homozygous phenotype | en_US |
dc.title | Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? | en_US |
dc.type | article | en_US |
dc.relation.journal | JOURNAL OF MEDICAL GENETICS | en_US |
dc.contributor.department | Hacettepe Univ, Fac Med, DNA Cell Bank & Gene Res Lab, TUBITAK,Child Hlth Inst, TR-06100 Ankara, Turkey -- Cumhuriyet Univ, Fac Med, Dept Med Biol & Genet, Sivas, Turkey -- Cumhuriyet Univ, Fac Med, Dept Orthopaed, Sivas, Turkey -- Cumhuriyet Univ, Fac Med, Dept Radiodiag, Sivas, Turkey | en_US |
dc.contributor.authorID | Akarsu, Nurten -- 0000-0001-5432-0032; OZBAS GERCEKER, FILIZ -- 0000-0003-1243-5880; Percin, Ferda -- 0000-0001-9317-8155 | en_US |
dc.identifier.volume | 35 | en_US |
dc.identifier.issue | 10 | en_US |
dc.identifier.endpage | 874 | en_US |
dc.identifier.startpage | 868 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |