Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 30 março 2025


Microdeletions and mutations of CREBBP (CBP) gene can cause

Further delineation of an entity caused by CREBBP and EP300

PDF) Rubinstein-Taybi syndrome in diverse populations

Genetic Basis for Congenital Heart Disease: Revisited: A

Clinical relevance of postzygotic mosaicism in Cornelia de Lange

Rubinstein–Taybi syndrome in diverse populations - Tekendo

PDF) Clinical exome sequencing identifies novel CREBBP variants in

PDF) Clinical exome sequencing identifies novel CREBBP variants in

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
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