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Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Mol Genet Metab Rep. 2023 Jun 19;36:100986. doi: 10.1016/j.ymgmr.2023.100986. eCollection 2023 Sep.
Mol Genet Metab Rep. 2023.
PMID: 37670898
Free PMC article.
A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
Debeljak M, Zver A, Jazbec J.
Debeljak M, et al. Among authors: zver a.
Am J Med Genet A. 2009 Feb 15;149A(4):755-9. doi: 10.1002/ajmg.a.32736.
Am J Med Genet A. 2009.
PMID: 19291770
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