legius_syndrome

Legius syndrome , also known as neurofibromatosis type 1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café au lait spots with or without axillary or inguinal freckling. Epidemiology. The prevalence of Legius syndrome is not known.

Romanisio G, Chelleri C, Scala M, Piccolo G, Carlini B, Gatti L, Capra V, Zara F, Bersano A, Pavanello M, De Marco P, Diana MC. RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome. Mol Genet Genomic Med. 2021 May 3:e1669. doi: 10.1002/mgg3.1669. Epub ahead of print. PMID: 33939317.

2: Davis AA, Zuccoli G, Haredy MM, Losee J, Pollack IF, Madan-Khetarpal S, Goldstein JA, Nischal KK. RASopathy in Patients With Isolated Sagittal Synostosis. Glob Pediatr Health. 2019 May 12;6:2333794×19846774. doi: 10.1177/2333794×19846774. PMID: 31192281; PMCID: PMC6540476.

3: Fisher MJ, Belzberg AJ, de Blank P, De Raedt T, Elefteriou F, Ferner RE, Giovannini M, Harris GJ, Kalamarides M, Karajannis MA, Kim A, Lázaro C, Le LQ, Li W, Listernick R, Martin S, Morrison H, Pasmant E, Ratner N, Schorry E, Ullrich NJ, Viskochil D, Weiss B, Widemann BC, Zhu Y, Bakker A, Serra E. 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Am J Med Genet A. 2018 May;176(5):1258-1269. doi: 10.1002/ajmg.a.38675. PMID: 29681099; PMCID: PMC5918269.

  • legius_syndrome.txt
  • Last modified: 2021/05/04 08:40
  • by administrador