Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1The Synergistic Activity of Thyroid Transcription Factor 1 and Pax 8 Relies on the Promoter/Enhancer Interplay2002 · 61 citations
2. 2Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency2002 · 56 citations
3. 3Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) Are Not a Frequent Cause of Congenital Hypothyroidism (CH) with Thyroid Dysgenesis1997 · 79 citations
4. 4Thyroid-Specific Enhancer-Binding Protein/NKX2.1 Is Required for the Maintenance of Ordered Architecture and Function of the Differentiated Thyroid2006 · 114 citations
5. 5Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene2008 · 85 citations