NBAS and short stature-optic atrophy-Pelger-Huët anomaly syndrome: Mutations in NBAS have not been linked to liver disease before, but a homozygous missense mutation c.5741G>A (p.Arg1914His) in the C-terminal domain of unknown function of NBAS has been associated with a syndrome of short stature, cone and optic nerve atrophy, and Pelger-Huët anomaly in Yakuts (SOPH syndrome [MIM: 614800]).17