Table 1
Demographics of patients with osteogenesis imperfecta. Type of Sillence classification and gene mutation are noted. M: male. F: Female. Sd: syndrome.
| Patient | Sex | Age | Type OI | Gene mutation |
|---|---|---|---|---|
| 1 | M | 16 | 4 | c.2314G>A (p.(Gly772ser)) heterozygous exon 38 gene COL1A2 |
| 2 | M | 11 | 3 | COL1A2 c.2314G>A p.Gly772Ser |
| 3 | F | 9 | 4 | SERPINF1 c.413G>A o.Ser 138 Asn |
| 4 | M | 15 | 3 | c.3106G>C (p.Gly1036Arg) heterozygous exon 47 gene COL1A2 |
| 5 | M | 9 | 3+Bruck sd | FKBP10 NM_021939.3 c.831dup Exon 5 .Gly278Argfs*95 |
| 6 | M | 9 | 3+Bruck sd | type FKPB10 |
| 7 | M | 10 | 3 | COL1A2 NM_00008 c.2026-1_2042dup Exon 34 p.Ala680_Gly685dup |
| 8 | M | 10 | 3 | COL1A2 |
| 9 | M | 10 | 3 | De novo gene mutation COL1A1 |
| 10 | M | 10 | 3 | COL1A1 |
| 11 | F | 14 | 1 | variant COL1A1 |
| 12 | F | 8 | 3+Bruck sd | FKBP10 NM_021939.3 c.1276C>T p.Gln426* |
| 13 | F | 8 | 3+Bruck sd | type FKPB10 |
| 14 | M | 22 | 3+Bruck sd | type FKPB10 forme récessive |
| 15 | M | 22 | 3+Bruck sd | type FKPB10 |
| 16 | F | 12 | 3 | NA |
| 17 | F | 17 | 3 | NA |
| 18 | F | 17 | 3 | NA |
| 19 | M | 19 | 3 | COL1A12 |
| 20 | M | 17 | 3 | NA |
| 21 | M | 17 | 3 | NA |
| 22 | F | 58 | 4 | COL1A2 NM_000089.3 c2324G exon 38 P.Gly775 Glu p.Ala680_Gly685dup |
| 23 | M | 21 | 3 | mutation c.2882G>A hétérozygote exon 44 du gène COL1A2 |
| 24 | M | 36 | 5 | variant c.-14C>TA (p.?) heterozygous simple exon 1 gene IFITM5 |
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.