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 13 maio 2024
Chiari 1 malformation and exome sequencing in 51 trios: the
Molecular analysis of the CBP gene in 60 patients with Rubinstein
Genes, Free Full-Text
IJMS, Free Full-Text
Genetic dissection of Chiari malformation type 1 using
Rubinstein–Taybi syndrome: New neuroradiological and
Microdeletions and mutations of CREBBP (CBP) gene can cause
Opposing Effects of CREBBP Mutations Govern the Phenotype of
IJMS, Free Full-Text
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