Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH...
Furkejuvvon:
Váldodahkkit: | , |
---|---|
Materiálatiipa: | Girji |
Almmustuhtton: |
Hindawi Limited,
2017-01-01T00:00:00Z.
|
Fáttát: | |
Liŋkkat: | Connect to this object online. |
Fáddágilkorat: |
Lasit fáddágilkoriid
Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!
|
Interneahtta
Connect to this object online.3rd Floor Main Library
Hildobáiki: |
A1234.567 |
---|---|
Njađus 1 | Oažžumis |