Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319849/
https://www.ncbi.nlm.nih.gov/pubmed/35885943
http://dx.doi.org/10.3390/genes13071161

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