ArticleArquivos de neuro-psiquiatria2025
Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.
Article in Arquivos de neuro-psiquiatria, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- The role of genetics and molecular mechanisms in early onset scoliosis.Journal of clinical orthopaedics and trauma · 2026Review
- EGR2 gene mutations: lessons learned from 4 cases.Arquivos de neuro-psiquiatria · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
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Abstract
backgroundCharcot-Marie-Tooth (CMT) disease is a genetically diverse group of hereditary neuropathies. Most studies on the frequency of CMT subtypes report that the early growth response 2 (
objectiveTo characterize the clinical and genetic features of
methodsWe retrospectively analyzed clinical and ancillary data from four individuals with confirmed molecular diagnosis of
resultsPathogenic and likely pathogenic variants were identified exclusively in the three zinc-finger domains of
conclusionOur findings corroborate the complex and varied clinical presentations of
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