Table 1 |
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|
Clinical and genetic features of 3 Tunisian GD patients. |
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|
Patients |
Sexe |
Consanguinity |
Clinical findings |
Genetic status |
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|
|
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|
Onset age (year) |
HMG |
SMG |
Platelet level |
Neurological symptoms |
Osteoarticular symptoms |
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|
|
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|
Case 1 |
M |
No |
46 |
- |
+ |
20 000/mm3 |
+ |
+ |
N370S/RecNciI |
|
Case 2 |
F |
Yes |
35 |
- |
+ |
100 000/mm3 |
- |
- |
N370S/N370S |
|
Case 3 |
F |
Yes |
34 |
- |
+ |
130 000/mm3 |
- |
- |
N370S/N370S |
|
|
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|
Abbreviations: HMG, hepatomegaly; SMG, splenomegaly; M, male; F, female |
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|
Ben Rhouma et al. Diagnostic Pathology 2012 7:4 doi:10.1186/1746-1596-7-4 |
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