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Article

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

American journal of medical genetics - 3 Jan 2000

Blough R I, Petrij F, Dauwerse J G, Milatovich-Cherry A, Weiss L, Saal H M, Rubinstein J H

Abstract excerpt

Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3' region of the gene. In order to test the hypothesis that the rate of microdeletion-positive cases would be greater if the entire gene was evaluated, we performed FISH on 66 patients with an established...

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Source

Identifiers

PMID: 10602114
DOI: 10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z

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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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Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.PMID 10602114Read ↗

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