Timely Diagnosis of PAX2-Related Disorder by Rapid Whole-Genome Sequencing in a Critically Ill Neonate with Bilateral Renal Hypoplasia: A Three-Generation Case Report.

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Title: Timely Diagnosis of PAX2-Related Disorder by Rapid Whole-Genome Sequencing in a Critically Ill Neonate with Bilateral Renal Hypoplasia: A Three-Generation Case Report.
Authors: Kim, Jinhee1 (AUTHOR), Kim, Hyeseon1 (AUTHOR), Ahn, So Yoon1,2 (AUTHOR), Sung, Se In1,2 (AUTHOR), Chang, Yun Sil1,2,3 (AUTHOR), Jang, Mi-Ae4 (AUTHOR), Lee, Sohyun5 (AUTHOR), Seo, Go Hun5 (AUTHOR), Yang, Misun1,2 (AUTHOR)
Source: Neonatal Medicine. May2026, Vol. 33 Issue 1, p117-117. 1p.
Database: Academic Search Ultimate
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ISSN:22879412
DOI:10.5385/nm.2025.32.2.97.c1