{
  "abstract": "A three‐year‐old girl with attenuated protein‐losing enteropathy carried compound‐heterozygous missense PLVAP variants inherited from unaffected non‐consanguineous parents. The case supports residual PLVAP function in missense‐associated DIAR10 and expands its genetic and clinical spectrum.",
  "abstract_shown": true,
  "affiliations": [
    "Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University Brno Czech Republic",
    "Department of Pediatrics University Hospital Brno and Masaryk University Brno Czech Republic",
    "CEITEC ‐ Central European Institute of Technology, Masaryk University Brno Czech Republic",
    "National Centre for Biomolecular Research, Faculty of Science Masaryk University Brno Czech Republic"
  ],
  "article_type": "brief report",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Jana Zídková",
      "orcid": "0000-0002-8729-6005"
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    {
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        1
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      "name": "Dagmar Procházková",
      "orcid": "0000-0003-1178-0551"
    },
    {
      "affs": [
        1
      ],
      "name": "Petra Konečná"
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    {
      "affs": [
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        2
      ],
      "name": "Kamila Réblová"
    },
    {
      "affs": [
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      "name": "Tereza Kramářová"
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    {
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      "name": "Johana Kopčilová",
      "orcid": "0009-0004-6312-4825"
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    {
      "affs": [
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        3
      ],
      "name": "Magdaléna Soukup Vodičková"
    },
    {
      "affs": [
        0
      ],
      "name": "Romana Borská"
    },
    {
      "affs": [
        0,
        3
      ],
      "name": "Lenka Fajkusová",
      "orcid": "0000-0001-8497-9209"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/406ahwk82ssyr.bib",
  "cited_by": 0,
  "doi": "10.1111/cge.70258",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13728968/",
  "id": "406ahwk82ssyr",
  "issns": [
    "0009-9163",
    "1399-0004"
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  "landing_url": "https://doi.org/10.1111/cge.70258",
  "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",
      "Research Letter"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7220953641",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70258",
  "pmcid": "PMC13728968",
  "pmid": "42843634",
  "published": "2026-10-07",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/406ahwk82ssyr.ris",
  "sources": [
    {
      "first_seen": "2026-11-07T12:21:49Z",
      "native_id": "PMC13728968",
      "source": "pmc",
      "url": "https://doi.org/10.1111/cge.70258"
    }
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)",
  "title_text": "Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:49Z",
  "url": "https://research.draconitic.com/paper/406ahwk82ssyr",
  "venue": "Clinical Genetics",
  "versions": []
}