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
Por um escritor misterioso
Last updated 18 janeiro 2025
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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