14q deletion


Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions

The gene NKX2-1, located at the segment q13 of chromosome 14 is highly expressed in the thyroid, lungs, and pituitary glands. Previous literature has shown that pathogenic variants and heterozygous deletions of NKX2-1 are associated with a complex phenotype involving choreoathetosis, respiratory problems, and hypothyroidism—a triad of symptoms called brain-lung-thyroid...
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