Legius syndrome
Evidence-based neurology checklist on legius syndrome: Genetics This is caused by mutations in the SPRED 1 gene The transmission is autosomal dominant Neurological features Dermatological features Skeletal features Differential diagnosis: neurofibromatosis Magnetic resonance imaging (MRI) brain…
Genetics
- This is caused by mutations in the SPRED 1 gene
- The transmission is autosomal dominant
Neurological features
Dermatological features
Skeletal features
Differential diagnosis: neurofibromatosis
Magnetic resonance imaging (MRI) brain
Synonym
References
- Denayer E, Chmara M, Brems H, et al. Legius syndrome in fourteen families. Hum Mutat 2011; 32:E1985-E1998.
- Bianchi M, Saletti V, Micheli R, et al. Legius syndrome: two novel mutations in the SPRED1 gene. Hum Genome Var 2015; 2:15051.
- Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R. The SPRED1 variants repository for Legius syndrome. G3 (Bethesda) 2011; 1:451-456.
