Legius syndrome
Sign in to saveAlso known as Neurofibromatosis Type 1-Like Syndrome, Neurofibromatosis type 1 like syndrome, NF1-like syndrome, Neurofibromatosis 1-like syndrome
rare genetic skin pigmentation disorder characterized by multiple cafe-au-lait macules
Research
131 papers- 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
- Legius Syndrome.1993
- Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.Genes · 2019
- Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.The Journal of biological chemistry · 2024
- The RASopathies.Annual review of genomics and human genetics · 2013
via PubMed
Wikidata facts
Show 3 more facts
- P494
- Cairo
- exact match
- www.orpha.net/ORDO/Orphanet_137605
- ICD-9-CM
- 709.09
via Wikidata · CC0