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Article

Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.

Italian journal of pediatrics - 5 Mar 2024

Maddaloni Chiara, Ronci Sara, De Rose Domenico Umberto, Bersani Iliana, Campi Francesca, Di Nardo Matteo, Stoppa Francesca, Adorisio Rachele, Amodeo Antonio, Toscano Alessandra, Digilio Maria Cristina, Novelli Antonio, Chello Giovanni, Braguglia Annabella, Dotta Andrea, Calzolari Flaminia

Abstract excerpt

TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in the regulation of some embryonic developmental processes, with a significant impact on respiratory and skeletal illnesses. Herein, we present the case of a female neonate with persistent pulmonary hypertension (PH) who underwent extracorporeal...

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Identifiers

PMID: 38443964
DOI: 10.1186/s13052-024-01575-3
PMCID: PMC10916178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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