Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)
Sally Nijim, Mimi Kim, Melissa Denish, Michael V. Gonzalez et autres
PURPOSE: TCF7L2 (OMIM 602228; HGNC:11641) is a transcription factor and a critical effector of the Wnt/ β-Catenin pathway. In 2021, 11 pediatric patients with monoallelic predicted loss-of-function (pLOF) TCF7L2 variants and syndromic features were observed. Characterization of patients with pLOF TCF7L2 variants …
us, ch, dk, fr, be, it, il, nl, pl, de, gb, au, cn (code pays fourni par la source)
1 citation
Genetics in Medicine