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 20 outubro 2024
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
Opposing Effects of CREBBP Mutations Govern the Phenotype of
Mosaic CREBBP mutation causes overlapping clinical features of
Characterization of 14 novel deletions underlying Rubinstein–Taybi
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Frontiers Case report: A preterm infant with rubinstein-taybi
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Opposing Effects of CREBBP Mutations Govern the Phenotype of
Opposing Effects of CREBBP Mutations Govern the Phenotype of
Rubinstein‐Taybi syndrome medical guidelines - Wiley - 2003
PDF) Novel cAMP binding protein-BP (CREBBP) mutation in a girl
Rubinstein-Taybi syndrome: clinical features, genetic basis
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
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