Alagille Syndrome: A Novel Mutation in JAG1 Gene
Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this paper, we described a novel mutation not yet reported in literature. This 3-yea...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Frontiers Media S.A.
2019-05-01
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| Rangatū: | Frontiers in Pediatrics |
| Ngā marau: | |
| Urunga tuihono: | https://www.frontiersin.org/article/10.3389/fped.2019.00199/full |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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