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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Opposing Effects of CREBBP Mutations Govern the Phenotype of
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Clinical exome sequencing identifies novel CREBBP variants in 18
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Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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Genetic dissection of Chiari malformation type 1 using
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy
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Rubinstein–Taybi syndrome associated with Chiari type I
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