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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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Auteurs principaux: Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham
Format: Artigo
Langue:Inglês
Publié: Wiley 2022-01-01
Collection:Case Reports in Genetics
Accès en ligne:http://dx.doi.org/10.1155/2022/3239260
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