Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.

Mir, Atefeh; Song, Yongjun; Lee, Hane; Nadeali, Zakiye; Akbarian, Fahimeh; Tabatabaiefar, Mohammad Amin

Mir, Atefeh; Song, Yongjun; Lee, Hane; Nadeali, Zakiye; Akbarian, Fahimeh; 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, Seoul, South Korea.
Lee H; Division of Medical Genetics, 3Billion, Seoul, South Korea.
Nadeali Z; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Akbarian F; 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.

Lab Med ; 55(2): 204-208, 2024 Mar 07.

Article in En | MEDLINE | ID: mdl-37467311

Subject(s)

Intellectual Disability; ras GTPase-Activating Proteins; Child; Humans; Male; Genomics; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Iran; Mutation; Phenotype; ras GTPase-Activating Proteins/genetics

Key words

IDD; Iran; MRD; SYNGAP1; ataxia; de novo; developmental delay; intellectual disability

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ras GTPase-Activating Proteins / Intellectual Disability Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Lab Med Year: 2024 Document type: Article Affiliation country: Iran Country of publication: United kingdom

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