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 01 junho 2024
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Rubinstein–Taybi syndrome: New neuroradiological and
Opposing Effects of CREBBP Mutations Govern the Phenotype of
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
Clinical exome sequencing identifies novel CREBBP variants in 18
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
PDF) Novel cAMP binding protein-BP (CREBBP) mutation in a girl
IJMS, Free Full-Text
Microdeletions and mutations of CREBBP (CBP) gene can cause
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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