Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
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Last updated 19 maio 2024
Molecular analysis of the CBP gene in 60 patients with Rubinstein
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Expanding the phenotypic spectrum in EP300‐related Rubinstein
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Opposing Effects of CREBBP Mutations Govern the Phenotype of
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Genes, Free Full-Text
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Microdeletions and mutations of CREBBP (CBP) gene can cause
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Rubinstein‐Taybi syndrome medical guidelines - Wiley - 2003
Opposing Effects of CREBBP Mutations Govern the Phenotype of
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
IJMS, Free Full-Text
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