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searching for Hemimegalencephaly 3 found (13 total)

Basaloid follicular hamartoma (482 words) [view diff] exact match in snippet view article find links to article

Systematized Basaloid Follicular Hamartoma with Microphthalmia and Hemimegalencephaly". Pediatric Dermatology. 28 (5). Wiley: 555–560. doi:10.1111/j.1525-1470

Schimmelpenning syndrome (970 words) [view diff] exact match in snippet view article find links to article

central nervous system abnormalities in Schimmelpenning syndrome are hemimegalencephaly and ipselateral gyral malformations. The major ocular abnormalities

Macrocephaly-capillary malformation (1,678 words) [view diff] exact match in snippet view article find links to article

somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly". Nat Genet. 44 (8): 941–5. doi:10.1038/ng.2329. PMC 4417942. PMID 22729223