Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.
Belfast City Hospital HSC Trust, Belfast, BT9 7AB, UK.
Rachel
R
Hardy
Charles W
CW
Shepherd
Deirdre E
DE
Donnelly
Shane A
SA
McKee
Patrick J
PJ
Morrison
D002648:Child; D006801:Humans; D008297:Male; D009154:Mutation; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000473:pathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins