Woodhouse-Sakati syndrome
Evidence-based neurology checklist on woodhouse-sakati syndrome: Genetics This is caused by mutations in the c2orf37 gene The transmission is autosomal recessive Neurological features Systemic features Investigations
Genetics
- This is caused by mutations in the c2orf37 gene
- The transmission is autosomal recessive
Neurological features
Systemic features
Investigations
References
- Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. Am J Neuroradiol 2012; 33:407-414.
- Ben-Omran T, Ali R, Almureikhi M, et al. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J Med Genet A 2011; 155A:2647-2653.
