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

Paired box 2 (PAX2) encodes a transcription factor essential for renal and ocular development, and its pathogenic variants cause a broad spectrum of PAX2-related disorders. We report the case of a critically ill neonate with antenatally detected bilateral renal hypoplasia accompanied by severe respi...

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Bibliografske podrobnosti

Principais autores:	Jinhee Kim, Hyeseon Kim, So Yoon Ahn, Se In Sung, Yun Sil Chang, Mi-Ae Jang, Sohyun Lee, Go Hun Seo, Misun Yang
Format:	Artigo
Jezik:	Inglês
Izdano:	Korean Society of Neonatology 2025-11-01
Serija:	Neonatal Medicine
Teme:	renal hypoplasia paired box proteins whole genome sequencing infant, newborn autosomal dominant inheritance
Online dostop:	http://www.neo-med.org/upload/pdf/nm-2025-32-2-97.pdf
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