AUTHOR=Lee Jaewoong , Yoo Jaeeun , Lee Seungok , Jang Dae-Hyun 

TITLE=CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1201080

DOI=10.3389/fped.2023.1201080

ISSN=2296-2360

ABSTRACT=<p>While somatic gain-of-function mutations in the <italic>CTNNB1</italic> gene cause diverse malignancies, germline loss-of-function mutations cause neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, <italic>CTNNB1</italic>-related neurodevelopmental disorders have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with <italic>CTNNB1</italic>-related neurodevelopmental disorder whose clinical features were similar to those of cerebral palsy, hindering diagnosis.</p>