The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

PurposeLoss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and intellectual disability, patients with CTNNB1-related neurodevelo...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Seungbok Lee, Se Song Jang, Soojin Park, Jihoon G. Yoon, Soo Yeon Kim, Byung Chan Lim, Jong Hee Chae
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Frontiers Media S.A. 2022-07-01
Sarja:	Frontiers in Pediatrics
Aiheet:	CTNNB1 β-catenin neurodevelopmental disorder with spastic diplegia and visual defects exudative vitreoretinopathy 7 Rett-like phenotype autism spectrum disorder
Linkit:	https://www.frontiersin.org/articles/10.3389/fped.2022.960450/full
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