Article

New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case report

2020-11-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> RSTS is a rare autosomal dominant inheritance disease. It is easy to overlap with the phenotypes of other syndromes, To assist with future diagnoses, we summarize the clinical and genetic characteristics of children with Rubinstein-Taybi syndrome. <bold>Case presentation: </bold>The patient, female, aged 3 months, 4.2 kg, was admitted into our hospital 3 times a...

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Literature Corpus work: 67f28f8f-684d-5fe4-9587-d39842e5f121
DOI: 10.21203/rs.3.rs-110594/v1

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