Baraitser-Winter cerebrofrontofacial syndrome
Evidence-based neurology checklist on baraitser-winter cerebrofrontofacial syndrome: Genetics This is caused by missense mutations in the β- and γ-actin (ACTB and ACTG) genes Craniofacial dysmorphism Ocular features Epilepsy types Brain abnormalities Other clinical features Differential diagnosis
Genetics
- This is caused by missense mutations in the β- and γ-actin (ACTB and ACTG) genes
Craniofacial dysmorphism
Ocular features
Epilepsy types
Brain abnormalities
Other clinical features
Differential diagnosis
References
- Climans SA, Mirsattari SM. Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. Epilepsy Behav Case Rep 2017; 7:58-60.
- Cianci P, Fazio G, Casagranda S, et al. Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A 2017; 173:546-549.
- Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome. Clin Genet 2017; 92:3-9.
- Verloes A, Di Donato N, Masliah-Planchon J, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet 2015; 23:292-301.
- Verloes A, Di Donato N, Masliah-Planchon J, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet 2015; 23:292-301.
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