Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood - Shalata, Adel; Lauhasurayotin, Supanun; Leibovitz, Zvi; Li, Hongbing; Hebert, Diane; Dhanraj, Santhosh; Hadid, Yarin; Mahroum, Mohammed; Bajar, Jacob; Egenburg, Sandro; Arad, Ayala; Shohat, Mordechai; et al. (Journal of medical genetics, 2019)
Keywords: Amino acids; Autopsy; Bone dysplasia; Bone marrow; Brain research; Cerebellum; Congenital defects; Congenital diseases; Deoxyribonucleic acid; DNA; DNA microarrays; Enlargement; Families & family life; Fetuses; Genes; Genetic testing; Genetics; Genomics; Genotypes; Golgi apparatus; Hindbrain; Hypoplasia; Kidney diseases; Magnetic resonance imaging; Membrane vesicles; Missense mutation; Mutation; Nonsense mutation; Parents & parenting; Patients; Phenotypes; Pituitary; Software; Substantia alba; Ultrasound; Ventricle; Ventricles (cerebral); Canada; Israel; California; United States--US; bone marrow failure; renal failure; dandy walker malformation; Exocyst; Exoc3l2