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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Characterization of 14 novel deletions underlying Rubinstein–Taybi
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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