Review
doi: 10.1002/ajmg.1320300149.
Is there a fragile(X) negative Martin-Bell syndrome?
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- PMID: 3052069
- DOI: 10.1002/ajmg.1320300149
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Review
Is there a fragile(X) negative Martin-Bell syndrome?
Am J Med Genet.
1988 May-Jun.
Abstract
During the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin-Bell syndrome. The literature and 4 families previously thought to have the fra(X) negative Martin-Bell syndrome were also reviewed. We were unable to make a concrete diagnosis of the fra(X) negative Martin-Bell syndrome.
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