TY  - GEN
AU  - Borges,Maria de Fátima
AU  - Domené,Horacio Mario
AU  - Scaglia,Paula Alejandra
AU  - Lara,Beatriz Hallal Jorge
AU  - Palhares,Heloísa Marcelina da Cunha
AU  - Santos,Andréia Vasconcelos Aguiar
AU  - Gonçalves,Amanda Lacerda Ferreira
AU  - Oliveira,Marília Matos
AU  - Marqui,Alessandra Bernadete Trovó de
TI  - A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
SN  - 1984-0462
PY  - 2020///0311
KW  - Adult
KW  - Child
KW  - Congenital Hypothyroidism
KW  - diagnosis
KW  - Delayed Diagnosis
KW  - Female
KW  - Genetic Markers
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Neonatal Screening
KW  - Thyrotropin, beta Subunit
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1590/1984-0462/;2019;37;4;00017
ER  -