Condition: INFANTILE LIVER FAILURE SYNDROME 2


rs140841721 in NBAS gene and INFANTILE LIVER FAILURE SYNDROME 2 PMID 26073778 2015 Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

PMID 26286438 2015 NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

PMID 28576691 2017 Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.