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Article

A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma.

European review for medical and pharmacological sciences - 1 Feb 2021

Huang F-R, Zhang A-M, Xu J, Huang L

Abstract excerpt

The aim of this study was to analyze the clinical features of a Rubinstein-Taybi syndrome (RSTS) case with neonatal glaucoma. We also wanted to explore the manifestation of the disease in combination with genotype-phenotype correlation. For DNA extraction we used 2 ml peripheral blood, collected from the child and parents. The extracted genomic DNA was used for clinical exome sequencing. A 38-day old baby boy was...

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Identifiers

PMID: 33629314
DOI: 10.26355/eurrev_202102_24852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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