Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis

Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in skull shape can lead to compression of the brain, causing severe comp...

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Detalles Bibliográficos
Autores principales: Barrell, William B., Adel Al-Lami, Hadeel, Goos, Jacqueline A. C., Swagemakers, Sigrid M. A., van Dooren, Marieke, Torban, Elena, van der Spek, Peter J., Mathijssen, Irene M. J., Liu, Karen J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904458/
https://www.ncbi.nlm.nih.gov/pubmed/34719684
http://dx.doi.org/10.1038/s41431-021-00988-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904458/
https://www.ncbi.nlm.nih.gov/pubmed/34719684
http://dx.doi.org/10.1038/s41431-021-00988-6

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