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Article

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Brain & development - 1 Apr 2015

Lee Jin Sook, Byun Christine K, Kim Hunmin, Lim Byung Chan, Hwang Hee, Choi Ji Eun, Hwang Yong Seung, Seong Moon-Woo, Park Sung Sup, Kim Ki Joong, Chae Jong-Hee

Abstract excerpt

OBJECTIVE: Rubinstein-Taybi syndrome (RSTS) is one of the neurodevelopmental disorders caused by mutations of epigenetic genes. The CREBBP gene is the most common causative gene, encoding the CREB-binding protein with histone acetyltransferase (HAT) activity, an epigenetic modulator. To date, there have been few reports on the structural abnormalities of the brain in RSTS patients. In addition, there are no...

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Source

Identifiers

PMID: 25108505
DOI: 10.1016/j.braindev.2014.07.007

Genes

CREBBP

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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