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Genetic analysis.
| Patient N | Gene | Mutation |
|---|---|---|
| 1 | CYP24A1 | Compound heterozygous: p.Arg396Trp (c.1186C>T)/p.Trp134Gly (c.400 T>G) |
| 2 | Not found | |
| 3 | Not found | |
| 4 | SLC34A3 | Homozygous: p.Arg76Arg fs*60 (c.228delC) |
| 5 | Not found | |
| 6 | CYP24A1 | Homozygous:p.E143del (c.427_429delGAA) |
| 7 | Not found | |
| 8 | Not found (SNIP in exon 13 homozygous) | |
| 9 | Not found (SNIP homozygous in exon 13 and 4) | |
| 10 | CYP24A1 | Compound heterozygous: p.E143del (c.427_429delGAA)/p.Trp134Gly (c.400 T>G) |
| Total | CYP24A1 = 3 | |
| SLC34A3-1 |
