Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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Last updated 22 dezembro 2024
Genes, Free Full-Text
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Clinical relevance of postzygotic mosaicism in Cornelia de Lange
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
Clinical relevance of postzygotic mosaicism in Cornelia de Lange
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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