Work

A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders

Year: 2025

Type: article

Study design: Case Report

Source: S S Korsakov Journal of Neurology and Psychiatry

DOI: 10.17116/jnevro2025125021137

Authors: A.S. Zuev, E.A. Fonova, V.V. Demeneva, A.A. Zarubin, A.A. Podus, L.I. Minaycheva, G.N. Seitova, V.M. Sivokha, L.S. Kraeva, I.N. Lebedev

Institutions: Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Tomsk National Research Medical Center, Siberian State Medical University

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4408188538

FWCI:

Cites: 17

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Related to: 10