A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation
S Suzuki, T Kokumai, A Furuya, T Nagamori… - European Journal of …, 2020 - Elsevier
Biallelic neuroblastoma amplified sequence (NBAS) gene mutations have recently been
identified to cause a reduction in its protein expression and a broad phenotypic spectrum,
from isolated short stature, optic nerve atrophy, and Pelger–Huët anomaly (SOPH)
syndrome or infantile liver failure syndrome 2 to a combined, multi-systemic disease
including skeletal dysplasia and immunological and neurological abnormalities. Herein, we
report a 34-year-old patient with a range of phenotypes for NBAS deficiency due to …
identified to cause a reduction in its protein expression and a broad phenotypic spectrum,
from isolated short stature, optic nerve atrophy, and Pelger–Huët anomaly (SOPH)
syndrome or infantile liver failure syndrome 2 to a combined, multi-systemic disease
including skeletal dysplasia and immunological and neurological abnormalities. Herein, we
report a 34-year-old patient with a range of phenotypes for NBAS deficiency due to …
