Alagille syndrome with heterozygous JAG1 c.224 T > C variant: a case report and literature review
Abstract Background To study Alagille Syndrome (ALGS), a complex genetic disorder characterized by chronic cholestasis, congenital abnormalities, dyslipidemia, and distinctive facial features that manifest from infancy. Case presentation A 4-month-old girl with chronic cholestasis was referred to ou...
I tiakina i:
| Ngā kaituhi matua: | , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
SpringerOpen
2026-01-01
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| Rangatū: | Egyptian Liver Journal |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s43066-026-00495-7 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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