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Disease

Cafe-au-Lait Spots

Emerging research
1
Publications
2021
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Research2021-05-19Genetics in medicine : official journal of the American College of Medical Genetics

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Most influential

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 487 cites
Recent publications

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 487 cites
Major themes1
  • Neurofibromatosis 11
Leading journals1
  • Genetics in medicine : official journal of the American College of Medical Genetics1
Leading researchers8
  • Avery RA1
  • Babovic-Vuksanovic D1
  • Berman Y1
  • Blakeley J1
  • Cunha KS1
  • Evans DG1
  • Ferner R1
  • Fisher MJ1
Affiliations (unnormalised)6
  • Boston Children's Hospital1
  • Children's Tumor Foundation1
  • Cincinnati Children's Hospital Medical Center1
  • Clinical Genetics1
  • Department of Clinical Genomics1
  • Department of Neurology and Cancer Center1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.