Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B.
Hormones (Athens). 2021 Jun;20(2):225-236. doi: 10.1007/s42000-020-00267-x. Epub 2021 Jan 5.
PMID:33400193
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M.
Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.
Liu R, Tian JL, Huang XL, Song YZ.
J Clin Med. 2022 Dec 9;11(24):7313. doi: 10.3390/jcm11247313.
PMID:36555929
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.