{
  "abstract": "Low phospholipid‐associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by ABCB4 mutations with heterogeneous manifestations. We describe two LPAC cases in a mother–son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel ABCB4 frameshift variant (c.715_716insTT; p.Ser239PhefsTer9) was identified, expanding the genetic spectrum of LPAC syndrome.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Hepatology Hunan Provincial People's Hospital and the First Affiliated Hospital of Hunan Normal University Changsha Hunan China"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 3,
  "authors": [
    {
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        0
      ],
      "name": "Hui‐Ming Yang"
    },
    {
      "affs": [
        0
      ],
      "name": "Jun Liu"
    },
    {
      "affs": [
        0
      ],
      "name": "Zheng Zhang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0ja56s4vaaq4j.bib",
  "cited_by": 0,
  "doi": "10.1002/ccr3.73591",
  "fulltext_url": "https://doi.org/10.1002/ccr3.73591",
  "id": "0ja56s4vaaq4j",
  "issns": [
    "2050-0904"
  ],
  "landing_url": "https://doi.org/10.1002/ccr3.73591",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "R"
    ],
    [
      "lcc",
      "R5-920"
    ],
    [
      "openalex",
      "2730|Drug Transport and Resistance Mechanisms"
    ]
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  "openalex": "W7219087044",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.73591",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-23",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/0ja56s4vaaq4j.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:43:47Z",
      "native_id": "740eafd623d1428ba5283f51be67f92f",
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      "url": "https://doi.org/10.1002/ccr3.73591"
    }
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2730|Drug Transport and Resistance Mechanisms",
      "subfield": "oncology"
    }
  ],
  "title": "Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant",
  "title_text": "Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:43:47Z",
  "url": "https://research.draconitic.com/paper/0ja56s4vaaq4j",
  "venue": "Clinical Case Reports",
  "versions": []
}