1.Wassner AJ, Brown RS (2015) Congenital hypothyroidism: recent advances Current opinion in endocrinology, diabetes, and obesity 22:407-412 doi:10.1097/med.0000000000000181
2.LaFranchi S (1999) Congenital hypothyroidism: etiologies, diagnosis, and management Thyroid : official journal of the American Thyroid Association 9:735-740 doi:10.1089/thy.1999.9.735
3.Rastogi MV, LaFranchi SH (2010) Congenital hypothyroidism Orphanet journal of rare diseases 5:17 doi:10.1186/1750-1172-5-17
4.Szinnai G (2014) Clinical genetics of congenital hypothyroidism Endocrine development 26:60-78 doi:10.1159/000363156
5.Brown R, Demmer LJTJoce, metabolism (2002) The etiology of thyroid dysgenesis-still an enigma after all these years The Journal of clinical endocrinology and metabolism 87:4069-4071 doi:10.1210/jc.2002-021092
6.Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Polak M, Czernichow P (2002) Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism The Journal of clinical endocrinology and metabolism 87:575-580 doi:10.1210/jcem.87.2.8268
7.Wassner AJ (2018) Congenital Hypothyroidism Clinics in perinatology 45:1-18 doi:10.1016/j.clp.2017.10.004
8.Persani L et al. (2010) Genetics and phenomics of hypothyroidism due to TSH resistance Molecular and cellular endocrinology 322:72-82 doi:10.1016/j.mce.2010.01.008
9.Fernández LP, López-Márquez A, Santisteban P (2015) Thyroid transcription factors in development, differentiation and disease Nature reviews Endocrinology 11:29-42 doi:10.1038/nrendo.2014.186
10.Mio C, Grani G, Durante C, Damante G (2020) Molecular defects in thyroid dysgenesis Clinical genetics 97:222-231 doi:10.1111/cge.13627
11.Lichti-Kaiser K, ZeRuth G, Jetten AM (2014) TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM Journal of endocrinology, diabetes & obesity 2:1024
12.Jetten AM (2018) GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases Cellular and molecular life sciences : CMLS 75:3473-3494 doi:10.1007/s00018-018-2841-9
13.Taha D, Barbar M, Kanaan H, Williamson Balfe J (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? Am J Med Genet A 122A:269-273 doi:10.1002/ajmg.a.20267
14.Senee V et al. (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism Nat Genet 38:682-687 doi:10.1038/ng1802
15.Szczepanek-Parulska E, Budny B, Borowczyk M, Zawadzka K, Sztromwasser P, Ruchała MJE (2020) Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis doi:10.1007/s12020-020-02422-1
16.De Felice M, Di Lauro R (2004) Thyroid development and its disorders: genetics and molecular mechanisms Endocrine reviews 25:722-746 doi:10.1210/er.2003-0028
17.de Filippis T et al. (2017) A frequent oligogenic involvement in congenital hypothyroidism 26:2507-2514 doi:10.1093/hmg/ddx145
18.Yang P, Wiser JL, Peairs JJ, Ebright JN, Zavodni ZJ, Bowes Rickman C, Jaffe GJ (2005) Human RPE expression of cell survival factors Invest Ophthalmol Vis Sci 46:1755-1764 doi:10.1167/iovs.04-1039
19.Kang HS et al. (2009) Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expression Molecular and cellular biology 29:6366-6379 doi:10.1128/mcb.01259-09
20.ZeRuth GT, Williams JG, Cole YC, Jetten AM (2015) HECT E3 Ubiquitin Ligase Itch Functions as a Novel Negative Regulator of Gli-Similar 3 (Glis3) Transcriptional Activity PLoS One 10:e0131303 doi:10.1371/journal.pone.0131303
21.Dimitri P et al. (2015) Expanding the Clinical Spectrum Associated With GLIS3 Mutations The Journal of clinical endocrinology and metabolism 100:E1362-1369 doi:10.1210/jc.2015-1827
22.Rurale G, Persani L, Marelli F (2018) GLIS3 and Thyroid: A Pleiotropic Candidate Gene for Congenital Hypothyroidism Frontiers in endocrinology 9:730 doi:10.3389/fendo.2018.00730
23.Dimitri P et al. (2011) Novel GLIS3 mutations demonstrate an extended multisystem phenotype 164:437-443 doi:10.1530/eje-10-0893
24.N W et al. (2009) A murine model of neonatal diabetes mellitus in Glis3-deficient mice FEBS Lett 583:2108-2113 doi:10.1016/j.febslet.2009.05.039
25.Jetten AJC, CMLS mls (2018) GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases 75:3473-3494 doi:10.1007/s00018-018-2841-9
26.Dimitri P (2017) The role of GLIS3 in thyroid disease as part of a multisystem disorder Best practice & research Clinical endocrinology & metabolism 31:175-182 doi:10.1016/j.beem.2017.04.007
27.Kang HS et al. (2017) GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation J Clin Invest 127:4326-4337 doi:10.1172/JCI94417
28.Rurale G, Marelli F, Duminuco P, Persani L (2020) Glis3 as a Critical Regulator of Thyroid Primordium Specification Thyroid : official journal of the American Thyroid Association 30:277-289 doi:10.1089/thy.2019.0196
29.Scoville D, Kang H, Jetten AJP, therapeutics (2020) Transcription factor GLIS3: Critical roles in thyroid hormone biosynthesis, hypothyroidism, pancreatic beta cells and diabetes 215:107632 doi:10.1016/j.pharmthera.2020.107632
30.Fu C et al. (2018) Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism Clinica chimica acta; international journal of clinical chemistry 476:38-43 doi:10.1016/j.cca.2017.11.011