Novel heterozygous missense variants in the
TOE1
gene linked to pontocerebellar hypoplasia type 7
Genes Dis
.
2024 Apr 8;12(1):101290.
doi: 10.1016/j.gendis.2024.101290.
eCollection 2025 Jan.
Authors
Aijun Yang
1
,
Xiaoli Kong
1
,
Qin Wang
1
,
Runqing Miao
1
,
Haixiang Ma
1
,
Anzhuo Chu
2
,
Zhengtong Wang
1
,
Jiaqing Lu
1
,
Bo Liu
1
,
Bingcheng Mu
1
,
Runhan Guo
1
,
Jiayi Li
1
,
Xiaoxiao Gongye
1
,
Huabao Xiong
1
,
Tao Zhong
1
Affiliations
1
Jining Medical University, Jining, Shandong 272067, China.
2
The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.
PMID:
39524536
PMCID:
PMC11549980
DOI:
10.1016/j.gendis.2024.101290
No abstract available