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...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , |
|---|---|
| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
Wiley
2022-01-01
|
| Цуврал: | Case Reports in Genetics |
| Онлайн хандалт: | http://dx.doi.org/10.1155/2022/3239260 |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
|