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hereditary transient congenital hypothyroidism相关文献:
Congenital hypothyroidism: etiologies, diagnosis, and management.
LaFranchi S.
Thyroid. 1999 Jul;9(7):735-40. doi: 10.1089/thy.1999.9.735.
PMID:10447022
Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.
Arteaga-Jacobo MC, Roco-Videla Á, Villota Arcos C, González-Hormazábal P, Gonzalo-Castro V, Pérez-Flores MV.
Medicina (Kaunas). 2024 Jul 16;60(7):1145. doi: 10.3390/medicina60071145.
PMID:39064575
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
Gaisl O, Konrad D, Joset P, Lang-Muritano M.
J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):1027-1030. doi: 10.1515/jpem-2019-0057.
PMID:31271559
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.
Bikker H, Baas F, De Vijlder JJ.
J Clin Endocrinol Metab. 1997 Feb;82(2):649-53. doi: 10.1210/jcem.82.2.3729.
PMID:9024270
[Neonatal hypothyroidism. pathophysiogenic, molecular and clinical aspects].
Solis JC, Valverde C.
Rev Invest Clin. 2006 Jul-Aug;58(4):318-34.
PMID:17146944
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