Data di Pubblicazione:
1990
Abstract:
The present paper reports the results of an epidemiological,
genetic and clinical study on neurofibromatosis type I (NF1) .
Data were obtained from the North East Italy NF1 Registry,
established in 1 980, which collects information on NF1 families referred for confirmation of diagnosis and for genetic
counselling. The total sample includes 143 families with 148 probands and 220 affected individuals. A diagnostic protocol was applied including clinical an d
laboratory evaluations of all affected subjects and their first
degree relatives.
The following estimates ofNF7 parameters have been reported: 1) North East Italy incidence (1 /4, 292 inhabitants); 2) mutation rate (6. 5 /1 00, 000 gametes/generation); 3) proportion of sporadic cases (5 6. 3 To); 4) frequency of diagnostic and associated clinical fin dings by age class.
genetic and clinical study on neurofibromatosis type I (NF1) .
Data were obtained from the North East Italy NF1 Registry,
established in 1 980, which collects information on NF1 families referred for confirmation of diagnosis and for genetic
counselling. The total sample includes 143 families with 148 probands and 220 affected individuals. A diagnostic protocol was applied including clinical an d
laboratory evaluations of all affected subjects and their first
degree relatives.
The following estimates ofNF7 parameters have been reported: 1) North East Italy incidence (1 /4, 292 inhabitants); 2) mutation rate (6. 5 /1 00, 000 gametes/generation); 3) proportion of sporadic cases (5 6. 3 To); 4) frequency of diagnostic and associated clinical fin dings by age class.
Tipologia CRIS:
01.01 - Articolo in rivista
Elenco autori:
Tenconi, R; Clementi, Maurizio; Turolla, L; Monciotti, Carlamaria; Bordugo, A; Rossetti, A.
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