Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 28 março 2025


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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