Article

Gordon Holmes syndrome and Huntington-like disease: Two types of RNF216-related disorders

2022-02-07

Abstract excerpt

<title>Abstract</title> <p><italic>Background and purpose: </italic>Cases of <italic>RNF216</italic>-related disorders have been reported sporadically. The systemic clinical classification and phenotype-genotype correlations of these disorders have not been fully studied.<italic>Methods: </italic>We report the case of a patient with a novel homozygous mutation in<italic> RNF216 </italic>and<italic> </italic>revie...

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Literature Corpus work: 7c8accfe-a0a2-57e2-872a-ee249be27327
DOI: 10.21203/rs.3.rs-1310364/v1

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