NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina - Segarra, Nuria Garcia; Ballhausen, Diana; Crawford, Heather; Perreau, Matthieu; Campos-Xavier, Belinda; van Spaendonck-Zwarts, Karin; Vermeer, Cees; Russo, Michel; Zambelli, Pierre-Yves; Stevenson, Brian; Royer-Bertrand, Beryl; Rivolta, Carlo; et al. (American journal of medical genetics. Part A, 2015)
Keywords: Abnormalities, Multiple - etiology; Abnormalities, Multiple - genetics; cervical instability; Child; Child, Preschool; fatty acid oxidation; Female; Humans; Immune System - physiopathology; immunodeficiency; Infant; liver disease; Liver Diseases - genetics; Male; Mutation; NBAS; Neoplasm Proteins - genetics; optic atrophy; Optic Atrophy - genetics; Pelger-Huet Anomaly - etiology; Pelger-Huët anomaly; Pregnancy; Retina - pathology; retinal dystrophy; skeletal dysplasia; Skin - pathology; transaminase; optic atrophy; retinal dystrophy; NBAS; liver disease; cervical instability; Pelger-Huët anomaly; immunodeficiency; fatty acid oxidation; transaminase; skeletal dysplasia