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Mizukami, Miyako; Ishikawa, Aki; Miyazaki, Sachiko; Tsuzuki, Akiko; Saito, Sakae; Niihori, Tetsuya; Sakurai, Akihiro
Brain & development (Tokyo. 1979), April 2021, 2021-Apr, 2021-04-00, Letnik: 43, Številka: 4Journal Article
Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to be a cause of a neurodevelopmental syndrome by Snijders Blok et al., but only a small number of probands have been reported. The patient was a 9-year-old female with severe intellectual disability, speech impairment, autism, joint laxity and dysmorphisms. Whole exome sequencing revealed a de novo missense variant in CHD3 (NM_001005273:exon18: c.2896C > T:p.R966W). We report a case with a pathogenic variant in the CHD3 gene. Our report indicates that CHD3 analysis is helpful for diagnosis of the cases with neurodevelopmental disorders, joint laxity, and coarse facial phenotype.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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