Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome Chiang PW et al. - The authors hypothesize mutations in CREBBP in these two families occur in the postzygotic stage in one of the parents (one generation ahead) of the affected individual. Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients. [more...]
