Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant Phenotype

Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> 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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
<i>FGFR2</i>
craniosynostosis
synonymous variant
clinical phenotype
genetic medicine
neurosurgery
Online Access:https://www.mdpi.com/2073-4425/13/7/1161

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https://www.mdpi.com/2073-4425/13/7/1161

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