Simpson-Golabi-Behmel syndrome (SGBS)
Evidence-based neurology checklist on simpson-golabi-behmel syndrome (sgbs): Genetics This is caused by mutations in the glypican 3 and 4 (GPC3 and GPC4) genes The genes are on chromosome Xq26 The genes regulate cell growth and division The transmission is X-linked Types Dysmorphic features…
Genetics
- This is caused by mutations in the glypican 3 and 4 (GPC3 and GPC4) genes
- The genes are on chromosome Xq26
- The genes regulate cell growth and division
- The transmission is X-linked
Types
Dysmorphic features
Neurological features
Skeletal features
Embryonal cancers
Genitourinary features
Cardiac features
Systemic features
Magnetic resonance imaging (MRI) features
References
- Tenorio J, Arias P, Martínez-Glez V, et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 2014; 9:138.
- Pavone P, Praticò AD, Rizzo R, et al. A clinical review on megalencephaly: a large brain as a possible sign of cerebral impairment. Medicine (Baltimore) 2017; 96:e6814.
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