article_metadata: Yun Chen Kaiyu Liu Zailan Yang Yaozhou Wang Hao Zhou
article_metadata: 10.3389/fgene.2022.929069
article_metadata: Front Genet
article_metadata: 2022 Jul 13;13:929069.
article_metadata: gch1 dopa-responsive dystonia homozygous hypotonia variant
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36204308/
article_metadata: Case Reports
article_metadata: PMC9532011
article_metadata: 36204308
article_metadata: Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review
article_metadata: 2022