| Autor: |
Filomena, Lo Vecchio, Elisabetta, Tabolacci, Veronica, Nobile, Maria Grazia, Pomponi, Roberta, Pietrobono, Giovanni, Neri, Simona, Amenta, Ettore, Candida, Cristina, Grippaudo, Ettore, Lo Cascio, Alessia, Vita, Federica, Tiberio, Alessandro, Arcovito, Wanda, Lattanzi, Maurizio, Genuardi, Pietro, Chiurazzi |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Genes. 13(7) |
| ISSN: |
2073-4425 |
| Popis: |
Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome. Their inheritance is autosomal dominant with incomplete penetrance and one of the main genes responsible for these syndromes is |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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