Article

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

2020-04-02

Abstract excerpt

<title>Abstract</title> <p>Background ： Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RSTS phenotypes than those caused by CREBBP point mutations, suggesting a concurrent pathogenetic role of flanking genes, typical of contiguous gene syndromes, but the detailed genetics are...

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Literature Corpus work: 1e408b65-d16b-53ec-ab01-09bcd0432864
DOI: 10.21203/rs.2.19377/v3

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