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J Steroid Biochem Mol Biol. Elsevier [巻]1. [号]251 （2025年） [査読] 無
[DOI] [2]. A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.
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[DOI] [4]. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
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[DOI] [5]. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
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