<reponame>hltfbk/E3C-Corpus
{
  "authors": [
    {
      "author": "<NAME>"
    },
    {
      "author": "<NAME>"
    },
    {
      "author": "<NAME>"
    },
    {
      "author": "<NAME>"
    },
    {
      "author": "<NAME>"
    }
  ],
  "doi": "10.1186/s12887-020-02102-z",
  "publication_date": "2020-05-03",
  "id": "EN111104",
  "url": "https://pubmed.ncbi.nlm.nih.gov/32357851",
  "source": "BMC pediatrics",
  "source_url": "",
  "licence": "CC BY",
  "language": "en",
  "type": "pubmed",
  "description": "",
  "text": "A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Using whole exome sequencing, we identified a de novo heterozygous deletion including exons 1-58 of the NF1 gene."
}