{
  "abstract": "A 10-year-old boy from a consanguineous family presented with progressive lower-limb spasticity and a family history of painless, non-healing trophic ulcers of the lower limbs. Genetic testing identified a homozygous FAM134B mutation, confirming HSAN IIB and expanding its clinical spectrum with early pyramidal involvement.",
  "abstract_shown": true,
  "affiliations": [
    "Pediatric Neurology Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.",
    "Pediatric Neurology Department, Mofid Children's Hospital, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran.",
    "Physical Medicine and Rehabilitation Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.",
    "Student Research Committee, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran.",
    "Department of Medical Genetics Shahid Beheshti University of Medical Sciences Tehran Iran."
  ],
  "article_type": "case study",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Farzad Ahmadabadi",
      "orcid": "0000-0002-8738-4398"
    },
    {
      "affs": [
        2
      ],
      "name": "Marzieh Babaee",
      "orcid": "0000-0002-5714-7500"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Narjes Jafari",
      "orcid": "0000-0002-7423-3814"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Mohadeseh Fathi"
    },
    {
      "affs": [
        3
      ],
      "name": "Diba Akbarzadeh",
      "orcid": "0000-0001-9409-5300"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Amin Jazayeri",
      "orcid": "0009-0004-6254-9469"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dss99z3fpxsn4.bib",
  "cited_by": 0,
  "doi": "10.1002/ccr3.73764",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13717945/?tool=EBI",
  "id": "dss99z3fpxsn4",
  "issns": [
    "2050-0904"
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  "landing_url": "https://europepmc.org/article/PMC/PMC13717945",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2804|Hereditary Neurological Disorders"
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  "openalex": "W7224454042",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13717945/pdf/?tool=EBI",
  "pmcid": "PMC13717945",
  "pmid": "42960059",
  "published": "2026-10-29",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/dss99z3fpxsn4.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:37Z",
      "native_id": "PMC:PMC13717945",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13717945"
    },
    {
      "first_seen": "2026-11-01T00:20:50Z",
      "native_id": "MED:42960059",
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      "url": "https://europepmc.org/article/MED/42960059"
    },
    {
      "first_seen": "2026-11-02T12:22:08Z",
      "native_id": "PMC13717945",
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      "url": "https://doi.org/10.1002/ccr3.73764"
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2804|Hereditary Neurological Disorders",
      "subfield": "neuroscience"
    }
  ],
  "title": "Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity",
  "title_text": "Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity",
  "type": "peer-reviewed",
  "updated_at": "2026-11-02T12:22:08Z",
  "url": "https://research.draconitic.com/paper/dss99z3fpxsn4",
  "venue": "Clinical case reports",
  "versions": []
}