| Autor: |
Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie, Lohmann, Dietmar R., Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nürnberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczorek, Dagmar, van Maldergem, Lionel, Doray, Bérénice |
| Zdroj: |
Genetics in Medicine; September 2014, Vol. 16 Issue: 9 p720-724, 5p |
| Abstrakt: |
Treacher Collins syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1mutations are observed in ~80% of the patients and are inherited in an autosomal dominant manner. Recently, two other genes have been reported in <2% of patients—POLR1Din patients with autosomal dominant inheritance, and POLR1Cin patients with autosomal recessive inheritance. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
