Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
Last updated 04 março 2025


Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Schematic representation (not in scale) of the CBP (A) and p300 (B)

Biomedicines, Free Full-Text

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

Biomolecules, Free Full-Text

Zebrafish ep300 knockdown models Rubinstein Taybi Syndrome-2. (a-d)

Frontiers Rare diseases of epigenetic origin: Challenges and opportunities

Jaw, fin and heart progenitor populations are affected by ep300

Zebrafish has two co-orthologues of ep300. (a) Phylogenetic tree of

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

Cancers, Free Full-Text
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