Condition: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY


rs369698072 in NBAS gene and SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY PMID 20577004 2010 Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.

PMID 26073778 2015 Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.