Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies
Author:
Affiliation:
1. From the Department of Pediatrics (C.G.L.); Department of Rehabilitation Medicine (H.J.K.), Nowon Eulji Medical Center, Eulji University School of Medicine, Seoul; and GC Genome (C.A.S., C.-S.K.), Yongin, Republic of Korea.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),Neurology (clinical)
Link
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200116
Reference13 articles.
1. De novo variants in CNOT3 cause a variable neurodevelopmental disorder
2. Structure and assembly of the NOT module of the human CCR4–NOT complex
3. Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies
4. Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
5. The 2017 Korean National Growth Charts for children and adolescents: development, improvement, and prospects
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