Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

Craniosynostosis, the premature fusion of the cranial sutures, affects ~1 in 2000 children. Although many patients with a genetically determined cause harbor a variant in one of just seven genes or have a chromosomal abnormality, over 60 genes are known to be recurrently mutated, thus comprising a l...

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Detalles Bibliográficos
Autores principales: Tooze, Rebecca S., Calpena, Eduardo, Weber, Astrid, Wilson, Louise C., Twigg, Stephen R. F., Wilkie, Andrew O. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048212/
https://www.ncbi.nlm.nih.gov/pubmed/36980886
http://dx.doi.org/10.3390/genes14030615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048212/
https://www.ncbi.nlm.nih.gov/pubmed/36980886
http://dx.doi.org/10.3390/genes14030615

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