Osamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, Yuiko Hasegawa, Satoi Nii, Hidenori Okada, Kazuki Nishikawa, Shin-Ichi Sumimoto, Eriko Nishi, Nobuhiko Okamoto, Toshiyuki Yamamoto
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. Many types of nucleotide variants of NKX2-1 have been identified, and phenotypic variability has been reported. Chromosomal deletions involving NKX2-1 have also been reported; however, phenotypic differences between patients with nucleotide variants of NKX2-1 and patients with chromosomal deletions involving NKX2-1 have not been well established...
February 2024: Intractable & Rare Diseases Research