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Table 3 Clinical signs in patients with PTH1R variants that are likely pathogenic (nonsense, frameshift and missense)

From: Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

Patient ID Age and dentition 1. permanent molars are affected 2. teeth distal to a PFE-affected molar are also affected 3. supracrestal presentation (eruption pathway completely clear) 4. there is a reduction of vertical growth of the alveolar bone in the affected regions 5. a lateral open bite is present in the affected regions 6. deciduous infraoccluded in mixed dentition 7. asymmetry due to bilaterally unbalanced eruption of the teeth 8. affected individual presents with a bi-lateral affection of PFE 9. affected molars are located in the basal bone of the jaws 10. affected molars show dilacerated roots
3* 8 mix x x x x x x   x   x
4* 17 perm x x x x x   x x x x
29 45 perm x   x      x   
5* 22 perm x x x x x    x x  
16 45 perm           
12* 14 perm x x x x x   x    
11* 43 perm x x x x x   x x   
14* 15 perm x x x x x   x   x  
15* 12 perm x x x x x   x   x  
17* 6 mix x x x   x x   x   
19 7 mix    x    x deciduous only x    
  1. The hallmark signs (key PFE traits) are italics and listed first, from 1 to 6
  2. Patients marked by * showed at least 5 hallmark signs