Article

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

2023-03-15

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: 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 <italic>CREBBP </italic>gene respectively, which is...

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Literature Corpus work: a60c8c9f-d85c-5198-b32f-050c48b77acb
DOI: 10.21203/rs.3.rs-2671798/v1

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