Genotype-phenotype correlations in tuberous sclerosis
Based on symptoms and signs reported in parents and children, we were able to divide the sample into 404 sporadic and 69 familial cases; 37 cases were excluded because of lack of information or when subjects did not meet diagnostic criteria for TSC. Mental retardation should be quantified in a more...
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Veröffentlicht in: | Journal of medical genetics 2000-05, Vol.37 (5), p.e3-3 |
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Hauptverfasser: | , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Based on symptoms and signs reported in parents and children, we were able to divide the sample into 404 sporadic and 69 familial cases; 37 cases were excluded because of lack of information or when subjects did not meet diagnostic criteria for TSC. Mental retardation should be quantified in a more standardised way and physical features documented in more detail. [...]careful attention will need to be paid to the modes of ascertainment when comparing TSC1 andTSC2 cases. |
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ISSN: | 0022-2593 1468-6244 1468-6244 |
DOI: | 10.1136/jmg.37.5.e3 |