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{
  "uri": "at://did:plc:jyns4iqaejb7xz77cw7biox3/app.bsky.feed.post/3locl72v5ss2c",
  "cid": "bafyreibumjcrohyozhbhg5gmt6qovhevmfo7cgm4ehnnquhetjxyfhb3yu",
  "value": {
    "text": "Kabuki syndrome type 1 (KS1) is a rare genetic disorder. A causal Alu insertion was identified in a unsolved Kabuki syndrome patient - amazingly - through DNA methylation signature. It's the first documentation of Alu insertion as a molecular mechanism responsible for KS1. #RareDisease",
    "$type": "app.bsky.feed.post",
    "embed": {
      "$type": "app.bsky.embed.external",
      "external": {
        "uri": "https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-025-01879-z",
        "thumb": {
          "$type": "blob",
          "ref": {
            "$link": "bafkreib5gbyno3l5p6bcw4fpnervlewfms42kjs5idrvp4jykzuxkx3uvq"
          },
          "mimeType": "image/jpeg",
          "size": 290696
        },
        "title": "Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature - Clinical Epigenetics",
        "description": "Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification o..."
      }
    },
    "langs": [
      "en"
    ],
    "facets": [
      {
        "index": {
          "byteEnd": 286,
          "byteStart": 274
        },
        "features": [
          {
            "tag": "RareDisease",
            "$type": "app.bsky.richtext.facet#tag"
          }
        ]
      }
    ],
    "createdAt": "2025-05-04T00:16:05.088Z"
  }
}