| Autor: |
Garavelli, L., De Brasi, D., Verri, R., Guareschi, E., Cariola, F., Melis, D., Calcagno, G., Salvatore, F., Unger, S., Sebastio, G., Albertini, G., Rivieri, F., Soli, F., SupertiFurga, A., Gentile, M. |
| Zdroj: |
American Journal of Medical Genetics. Part A; May 2008, Vol. 146 Issue: 9 p1185-1189, 5p |
| Abstrakt: |
Holt–Oram syndrome HOS OMIM 142900 is characterized by upperextremity malformations involving the radial, thenar, or carpal bones and a personal andor family history of congenital heart defects CHDs. It is inherited in an autosomal dominant manner. The TBX5gene located on chromosome 12 12q24.1 is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation Lys88ter. We discuss genotype–phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis. © 2008 WileyLiss, Inc. |
| Databáze: |
Supplemental Index |
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