High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism - Makretskaya, Nina; Bezlepkina, Olga; Kolodkina, Anna; Kiyaev, Alexey; Vasilyev, Evgeny V.; Petrov, Vasily; Kalinenkova, Svetlana; Malievsky, Oleg; Dedov, Ivan I.; Tiulpakov, Anatoly (PloS one, 2018)
Keywords: Adolescent; Autoantigens - genetics; Bioinformatics; Biology and Life Sciences; Care and treatment; Child; Child, Preschool; Congenital diseases; Congenital Hypothyroidism - genetics; Congenital Hypothyroidism - pathology; Deoxyribonucleic acid; DNA; Dual Oxidases - genetics; Endocrinology; Female; Gene mutation; Gene sequencing; Genes; Genetic aspects; Genetics; Genomics; Guidelines; Health screening; Hearing loss; High-Throughput Nucleotide Sequencing; Humans; Hypothyroidism; Infant; Iodide Peroxidase - genetics; Iron-Binding Proteins - genetics; Laboratories; Male; Medicine and Health Sciences; Metabolism; Multiplex Polymerase Chain Reaction; Mutation; Neonates; Nkx2.5 protein; Otolaryngology; Patients; Pax8 protein; Pediatrics; Polymorphism, Genetic; Receptors, Thyrotropin - genetics; Research and Analysis Methods; Risk factors; Screening; Sequence Analysis, DNA; Severity of Illness Index; Studies; Sulfate Transporters - genetics; Thyroid; Thyroid gland; Thyroid Nuclear Factor 1 - genetics; Thyroid transcription factor 1; Thyroid-stimulating hormone; Thyroid-stimulating hormone receptors; United States--US; Netherlands; Russia