Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 11 novembro 2024
PDF) Clinical exome sequencing identifies novel CREBBP variants in
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
PDF] Multiple Dental and Skeletal Abnormalities in an Individual
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
Diagnosis and management of Cornelia de Lange syndrome: first
Characterization of 14 novel deletions underlying Rubinstein–Taybi
PDF) Rubinstein-Taybi syndrome in diverse populations
Articles in 2016 European Journal of Human Genetics
Genes, Free Full-Text
Microdeletions and mutations of CREBBP (CBP) gene can cause
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi
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