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Article

Etiology and recurrence risk in Rubinstein-Taybi syndrome

6 Jun 2005

Abstract excerpt

Epidemiologic data on 45 patients with Rubinstein-Taybi syndrome from the Netherlands and 50 patients from the USA are compared with data from 407 patients reported in the literature. The 502 probands had a total of 708 sibs, including one probable recurrence. In 12 of 13 proven or possible monozygotic twins both children were affected. Two patients have reproduced with one affected and 2 normal offspring. The...

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PMID: 2118780
DOI: 10.1002/ajmg.1320370610

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