Article
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Genes - 27 Jun 2022
Lo Vecchio Filomena, Tabolacci Elisabetta, Nobile Veronica, Pomponi Maria Grazia, Pietrobono Roberta, Neri Giovanni, Amenta Simona, Candida Ettore, Grippaudo Cristina, Lo Cascio Ettore, Vita Alessia, Tiberio Federica, Arcovito Alessandro, Lattanzi Wanda, Genuardi Maurizio, Chiurazzi Pietro
Abstract excerpt
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...
Topics
- Acrocephalosyndactylia
- Craniosynostoses
- Female
- Humans
- Mothers
- Phenotype
- Receptor, Fibroblast Growth Factor, Type 2