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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First case report of inherited Rubinstein-Taybi syndrome
Rubinstein–Taybi syndrome: clinical and molecular overview
First case report of inherited Rubinstein-Taybi syndrome
Clinical exome sequencing identifies novel CREBBP variants in 18
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
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Molecular analysis of the CBP gene in 60 patients with Rubinstein
PDF) First case report of inherited Rubinstein-Taybi syndrome
Mosby's 2021 Nursing Drug Reference / Edition 34 by Linda Skidmore
First case of Rubinstein–Taybi syndrome with desquamation
CREBBP mutations in individuals without Rubinstein–Taybi syndrome
Identification of de novo EP300 and PLAU variants in a patient
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion
First case of Rubinstein–Taybi syndrome with desquamation
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