Germinal mosaicism in Crouzon syndrome |
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| Authors: | B. R. Rollnick |
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| Affiliation: | University of Illinois College of Medicine at Chicago, Department of Pediatrics. |
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| Abstract: | Two brothers with Crouzon craniofacial dysostosis syndrome born to normal unrelated parents are described. Paternity studies show the probability of paternity is 99.6%. This report appears to represent the first example of germinal mosaicism in Crouzon syndrome. |
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| Keywords: | craniofacial dysostosis Crouzon syndrome germinal mosaicism mutation |
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