Academic Journal
X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males
| العنوان: | X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males |
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| المؤلفون: | Galjaard, RJH, Kostakoglu, N, Hoogeboom, JJM, Breedveld, GJ, van der Linde, HC, Hovius, SER, Oostra, BA, Sandkuijl, LA, Akarsu, AN, Heutink, P |
| المساهمون: | Plastik, Rekonstrüktif ve Estetik Cerrahi |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2001 |
| المجموعة: | Hacettepe University Institutional Repository |
| مصطلحات موضوعية: | Biochemistry & Molecular Biology, Genetics & Heredity |
| الوصف: | Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | text/plain; application/pdf |
| اللغة: | English |
| تدمد: | 1018-4813 |
| Relation: | European Journal Of Human Genetics; https://doi.org/10.1038/sj.ejhg.5200692; http://hdl.handle.net/11655/17114; 653; 658 |
| DOI: | 10.1038/sj.ejhg.5200692 |
| الاتاحة: | http://hdl.handle.net/11655/17114 https://doi.org/10.1038/sj.ejhg.5200692 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E6C8D4B5 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 10184813 |
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| DOI: | 10.1038/sj.ejhg.5200692 |