A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome
Chin Med J (Engl)
.
2022 Oct 5;135(19):2375-2377.
doi: 10.1097/CM9.0000000000001901.
Authors
Xin Zhao
1
,
Yan Lan
,
Jinfeng Miao
,
Guo Li
,
Wenzhe Sun
,
Xiuli Qiu
,
Suiqiang Zhu
,
Zhou Zhu
Affiliation
1
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
PMID:
34935685
PMCID:
PMC9771189
DOI:
10.1097/CM9.0000000000001901
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Humans
Middle Aged
Mutation
Siblings*
TATA-Binding Protein Associated Factors* / genetics
Substances
BRF1 protein, human
TATA-Binding Protein Associated Factors