Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J. Mol Genet Genomic Med. 2024 Feb; 12(2):e2408.