{
  "abstract": "Background: T-box transcription factor 4 (TBX4) is a critical regulator of lung and pulmonary vascular development. Pathogenic TBX4 variants are associated with developmental lung disease, pulmonary hypertension, and neonatal respiratory failure.\n\nCase presentation: We report two siblings with lethal neonatal respiratory failure. The first, a term female infant, died at 11 h of life, and her late-preterm male sibling died at 9 h despite maximal intensive care. Both developed severe hypoxemia and pulmonary hypertension. Autopsy demonstrated marked pulmonary hypoplasia. Whole-exome sequencing identified a novel heterozygous TBX4 variant, c.741G>C (p.Lys247Asn), inherited from their unaffected father. Preimplantation genetic testing detected the variant in seven of 10 embryos.\n\nConclusion: These cases expand the spectrum of TBX4-associated developmental lung disease and support consideration of TBX4 testing in neonates with unexplained respiratory failure and pulmonary hypertension.",
  "abstract_shown": true,
  "affiliations": [
    "Division of Neonatology, Department of Pediatrics, University of Michigan Health-Sparrow, Lansing, MI, United States",
    "Division of Neonatology, Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, United States"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Ranga Prasanth Thiruvenkataramani"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Tarek Mohamed"
    },
    {
      "affs": [
        0
      ],
      "name": "Mary v Pugmire"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Said A. Omar"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4stjegmtdv0fq.bib",
  "cited_by": 0,
  "doi": "10.3389/fped.2026.1816836",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13737580/",
  "id": "4stjegmtdv0fq",
  "issns": [
    "2296-2360"
  ],
  "landing_url": "https://doi.org/10.3389/fped.2026.1816836",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2746|Congenital Diaphragmatic Hernia Studies"
    ]
  ],
  "openalex": "W7223217369",
  "pdf_url": "https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1816836/pdf",
  "pmcid": "PMC13737580",
  "pmid": "42991514",
  "published": "2026-10-22",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/4stjegmtdv0fq.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:22:43Z",
      "native_id": "PMC13737580",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fped.2026.1816836"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Congenital Diaphragmatic Hernia Studies",
      "subfield": "surgery"
    }
  ],
  "title": "Case Report: Familial TBX4-related developmental lung disease: two siblings with fatal neonatal respiratory failure",
  "title_text": "Case Report: Familial TBX4-related developmental lung disease: two siblings with fatal neonatal respiratory failure",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:22:43Z",
  "url": "https://research.draconitic.com/paper/4stjegmtdv0fq",
  "venue": "Frontiers in Pediatrics",
  "versions": []
}