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
10.1590/1984-0462/;2019;37;4;00017
Rev Paul Pediatr
2019 Jun 3;37(4):520-524.
CC BY
https://pubmed.ncbi.nlm.nih.gov/31166470/
Congenital Hypothyroidism / diagnosis Delayed Diagnosis Mutation Neonatal Screening Thyrotropin, beta Subunit / genetics
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
PMC6821475
31166470
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
2019