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Article

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Human molecular genetics - 23 Feb 2026

Tang Yanan, Ye Xiantao, Zhan Yongkun, Zhang Kaichuang, Qiu Wenjuan, Yang WenQing, Gu Xuefan, Yu Yongguo, Xiao Bing, Sun Yu

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) and Menke-Hennekam syndrome (MKHK) are two rare Mendelian disorders presented with variable degrees of intellectual disability and different facial dysmorphism. They are caused by loss-of-function (LOF) variants or missense/inframe deletion variants in the exon 30 and 31 of the CREBBP gene respectively. This study aimed to refine the phenotype and provide characterization of...

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Identifiers

PMID: 41758603
DOI: 10.1093/hmg/ddag006

Genes

CREBBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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