Article

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome

2022-05-06

Abstract excerpt

This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome. We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were pe...

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Identifiers and source

Literature Corpus work: 207680b2-fbce-535d-a4aa-9a1093a34a4b
DOI: 10.21203/rs.3.rs-1566308/v1

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