Title

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

Document Type

Journal Article

Publication Date

2-1-2022

Journal

Pediatrics

Volume

149

Issue

2

DOI

10.1542/peds.2021-052886

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.

Department

Genomics and Precision Medicine

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