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
Hauptverfasser: DE VRIES, PETRUS J, BOLTON, PATRICK F
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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.5.e3