ABSTRACT
Recurrent acute liver failure (RALF) ameliorated by early antipyretic therapy, glucose infusion, and parenteral lipids; short stature; skeletal dysplasia; fractures; reduced subcutaneous fat and wrinkled skin; facial dysmorphism; optic atrophy with loss of visual acuity and colour blindness; Pelger-Huët anomaly; hypogammaglobulinemia and NK cell depletion; muscular hypotonia; no biochemical phenotype; biallelic mutations in NBAS.
