Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
Clin Exp Pediatr
.
2023 Mar;66(3):142-144.
doi: 10.3345/cep.2022.01144.
Epub 2022 Dec 30.
Authors
Byungseung Moon
1
,
Minhye Kim
1
,
Hye Jin Kim
1
,
Jae So Cho
1
,
Hey Joon Son
1
,
Byung Chan Lim
1
,
Ki Joong Kim
1
,
Jong Hee Chae
1
2
,
Soo Yeon Kim
1
2
Affiliations
1
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
2
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
PMID:
36596744
PMCID:
PMC9989718
DOI:
10.3345/cep.2022.01144
No abstract available
Grants and funding
2021-ER0701-00/Korea Centers for Disease Control and Prevention/Republic of Korea