Article

Reviewing the Clinical Spectrum Related to Kmt2b Gene Mutations: Unusual Clinical Presentation and a Possible New Pathogenic Mutation

2021-12-28

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction</bold> KMT2B related dystonia is a childhood onset generalized dystonia. Since its first description in 2016, different phenotypic spectrum have been reported. The aim of the case report is to provide data that may help to understand the spectrum of KMT2B-related disorders. We present two members of a family with a possible non-previously described pathogenic mutation...

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Literature Corpus work: 53ded96c-01a6-5446-8dc7-92868cbe06ce
DOI: 10.21203/rs.3.rs-878780/v1

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