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[Clinical characteristics and genetic analysis of mental retardation disorder with TRIO gene variant].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024

Tian X J, Wang X H, Ren X T, Jia T M, Zhang G Y

Abstract excerpt

Objective: To summarize the clinical and genetic characteristics of mental retardation disorder (MRD) with TRIO gene variant in children. Methods: Case series study. The data of 9 children with TRIO gene variants were collected retrospectively from August 2019 to March 2024 in Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, the Third Affiliated...

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Humans
Male
Female
Intellectual Disability
Child, Preschool
Retrospective Studies
Child
Phenotype
Mutation
Infant
Genotype
Microcephaly

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PMID: 39429079
DOI: 10.3760/cma.j.cn112140-20240423-00285

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