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Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.

ABSTRACT: An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia.

SUBMITTER: Berger SI

PROVIDER: S-EPMC8840640 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.

Berger Seth I SI Miller Ilana I Tochen Laura L

Pediatrics 20220201 2

An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia. ...[more]

PMID: 35083481

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Project description: Not available

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