Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys–Die...

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Detalles Bibliográficos
Autores principales: Gustafson, Jonas, Bjork, Maria, van Ravenswaaij-Arts, Conny M. A., Cunningham, Michael L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976637/
https://www.ncbi.nlm.nih.gov/pubmed/35378950
http://dx.doi.org/10.1155/2022/3239260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976637/
https://www.ncbi.nlm.nih.gov/pubmed/35378950
http://dx.doi.org/10.1155/2022/3239260

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