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Article

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

BMC medical genetics - 23 Feb 2013

Marzuillo Pierluigi, Grandone Anna, Coppola Ruggero, Cozzolino Domenico, Festa Adalgisa, Messa Federica, Luongo Caterina, Del Giudice Emanuele Miraglia, Perrone Laura

Abstract excerpt

BACKGROUND: Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and...

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Identifiers

PMID: 23432975
DOI: 10.1186/1471-2350-14-28
PMCID: PMC3598247

Genes

CREBBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.PMID 23432975Read ↗

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