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Mutations Identified in Four Patients with Diaphanospondylodysostosis
| Patient | Location | Mutation | Result |
|---|---|---|---|
| R05-062A | Exon 9 | c.925C>T | p.Q309X |
| Exon 9 | c.925C>T | p.Q309X | |
| R06-244A | Exon 1 | c.26_35delCTCTGGCTGAinsAGACCAGAGCGGCG | p.Ala9GlufsX44 |
| Intron 11 | c.1031+5G>A | Unknown | |
| R83-044A | Exon 6 | c.514C>T | p.Q172X |
| Unknown | Unknown | Unknown | |
| R94-127A | Exon 12 | c.1109C>T | p.P370L |
| Exon 13 | c.1638T>A | p.C546X |
