Genotype-phenotype associations
| . | Present Study . | Previous Study (Gillio et al23) . | ||||
|---|---|---|---|---|---|---|
| Group I (N = 8, n = 8) . | Group II (N = 21, n = 17) . | P Value . | IVS4 (N = 26) . | Exon 1 (N = 17) . | Non-C* (N = 338) . | |
| Median age (y) at onset of hematological disease (95% CI) | 6.21 (2.88-9.54) | 5.79 (4.14-6.44) | .508 | 2.72 (2.32-3.12) | 7.60 (5.85-9.35) | 6.6 (6.17-7.03) |
| Mean number of congenital malformations | 1.3 | 1.1 | .496 | 3.7 | 0.6 | — |
| . | Present Study . | Previous Study (Gillio et al23) . | ||||
|---|---|---|---|---|---|---|
| Group I (N = 8, n = 8) . | Group II (N = 21, n = 17) . | P Value . | IVS4 (N = 26) . | Exon 1 (N = 17) . | Non-C* (N = 338) . | |
| Median age (y) at onset of hematological disease (95% CI) | 6.21 (2.88-9.54) | 5.79 (4.14-6.44) | .508 | 2.72 (2.32-3.12) | 7.60 (5.85-9.35) | 6.6 (6.17-7.03) |
| Mean number of congenital malformations | 1.3 | 1.1 | .496 | 3.7 | 0.6 | — |
N indicates number of affected individuals; n, number of families; CI, confidence interval.
Blank cell indicates a category that was not described in the study.