Rubinstein-Taybi syndrome in first cousins with different de novo mutations.
Balci
Sevim
S
Ali Ergün
Mehmet
M
Lechno
Stanislav
S
Bartsch
Oliver
O
D000293:Adolescent; D000328:Adult; D050882:CREB-Binding Protein / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*
D050882:CREB-Binding Protein; C494363:CREBBP protein, human