Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions
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Nucleotide variations or deletions in the NK2 homeobox 1 gene (NKX2-1), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-thyroid syndrome. Man... ...
