Fatal systemic disorder caused by biallelic variants in FARSA.
Kim SY, Ko S, Kang H, Kim MJ, Moon J, Lim BC, Kim KJ, Choi M, Choi HJ, Chae JH.
Kim SY, et al. Among authors: chae jh.
Orphanet J Rare Dis. 2022 Aug 2;17(1):306. doi: 10.1186/s13023-022-02457-9.
Orphanet J Rare Dis. 2022.
PMID: 35918773
Free PMC article.