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 04 janeiro 2025
Opposing Effects of CREBBP Mutations Govern the Phenotype of
PDF) Novel Function of the Transactivation Domain of a Pituitary
Genes, Free Full-Text
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with
Molecular analysis of the CBP gene in 60 patients with Rubinstein
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Genetic dissection of Chiari malformation type 1 using
Characterization of 14 novel deletions underlying Rubinstein–Taybi
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Frontiers Case report: A preterm infant with rubinstein-taybi
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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