Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 01 janeiro 2025
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
Genes, Free Full-Text
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Characterization of 14 novel deletions underlying Rubinstein–Taybi
PDF) Rubinstein-Taybi syndrome in diverse populations
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Further delineation of an entity caused by CREBBP and EP300
Clinical relevance of postzygotic mosaicism in Cornelia de Lange
Further delineation of an entity caused by CREBBP and EP300
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