Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 11 novembro 2024
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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