First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
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Last updated 09 novembro 2024
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
PDF) First case report of inherited Rubinstein-Taybi syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Brain size regulations by cbp haploinsufficiency evaluated by in
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
Rubinstein–Taybi syndrome: clinical and molecular overview
Long-read sequencing to reclassify variants of uncertain
Clinical exome sequencing identifies novel CREBBP variants in 18
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
Case report: a Chinese girl like atypical Rubinstein–Taybi
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