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 18 junho 2024
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Rubinstein‐Taybi syndrome medical guidelines - Wiley - 2003
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PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
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Genetic dissection of Chiari malformation type 1 using
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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Opposing Effects of CREBBP Mutations Govern the Phenotype of
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PDF) Case Report: Rubinstein-Taybi Syndrome
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
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PDF) Novel cAMP binding protein-BP (CREBBP) mutation in a girl
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A novel CREBBP mutation and its phenotype in a case of Rubinstein
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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PDF) Case Report: Rubinstein-Taybi Syndrome
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