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Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism.
Front Endocrinol (Lausanne). 2024 Dec 19;15:1465176. doi: 10.3389/fendo.2024.1465176. eCollection 2024.
Front Endocrinol (Lausanne). 2024.
PMID: 39749016
Free PMC article.
[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].
Enacán RE, Masnata ME, Belforte F, Papendieck P, Olcese MC, Siffo S, Gruñeiro-Papendieck L, Targovnik H, Rivolta CM, Chiesa AE.
Enacán RE, et al. Among authors: masnata me.
Arch Argent Pediatr. 2017 Jun 1;115(3):e162-e165. doi: 10.5546/aap.2017.e162.
Arch Argent Pediatr. 2017.
PMID: 28504502
Free article.
Spanish.
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