article_metadata: Maria de Fátima Borges Horacio Mario Domené Paula Alejandra Scaglia Beatriz Hallal Jorge Lara Heloísa Marcelina da Cunha Palhares Andréia Vasconcelos Aguiar Santos Amanda Lacerda Ferreira Gonçalves Marília Matos Oliveira Alessandra Bernadete Trovó de Marqui
article_metadata: 10.1590/1984-0462/;2019;37;4;00017
article_metadata: Rev Paul Pediatr
article_metadata: 2019 Jun 3;37(4):520-524.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31166470/
article_metadata: Congenital Hypothyroidism / diagnosis Delayed Diagnosis Mutation Neonatal Screening Thyrotropin, beta Subunit / genetics
article_metadata: Congenital Hypothyroidism / diagnosis Delayed Diagnosis Mutation Neonatal Screening Thyrotropin, beta Subunit / genetics Case Reports Adult Child Congenital Hypothyroidism / genetics Female Genetic Markers Humans Infant Infant, Newborn Male Genetic Markers Thyrotropin, beta Subunit
article_metadata: PMC6821475
article_metadata: 31166470
article_metadata: A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
article_metadata: 2019