Literature DB >> 2118783

Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: a case report.

R B Lowry1.   

Abstract

This report concerns a 14-year follow-up of a patient whose clinical manifestations led to a diagnosis of Rubinstein-Taybi syndrome; however, his intelligence is normal. Reappraisal resulted in a change of diagnosis to Saethre-Chotzen syndrome. Overlapping manifestations in the 2 syndromes are discussed.

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Year:  1990        PMID: 2118783     DOI: 10.1002/ajmg.1320370613

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  1 in total

1.  High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Authors:  Cristina Gervasini; Federica Mottadelli; Roberto Ciccone; Paola Castronovo; Donatella Milani; Gioacchino Scarano; Maria Francesca Bedeschi; Serena Belli; Alba Pilotta; Angelo Selicorni; Orsetta Zuffardi; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2010-02-03       Impact factor: 4.246

  1 in total

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