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