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A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
Mir, Atefeh; Song, Yongjun; Lee, Hane; Nadeali, Zakiye; Tabatabaiefar, Mohammad Amin.
Affiliation
  • Mir A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Song Y; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.
  • Lee H; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.
  • Nadeali Z; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Mol Genet Genomic Med ; 12(1): e2305, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37877434
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Speech / Developmental Disabilities Limits: Adolescent / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2024 Document type: Article Affiliation country: Iran Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Speech / Developmental Disabilities Limits: Adolescent / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2024 Document type: Article Affiliation country: Iran Country of publication: United States