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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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Hlavní autoři: Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley 2022-01-01
Edice:Case Reports in Genetics
On-line přístup:http://dx.doi.org/10.1155/2022/3239260
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