Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.
Where this comes from
- Record sourced from PubMed, PMID 35083481.
- Also identified by DOI 10.1542/peds.2021-052886 and PMC identifier 8840640.
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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.
Medical subject headings
- Dystonic Disorders
- Exome
- GTP Cyclohydrolase