A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
Abstract Background Aim of this work was to describe a rare inheritance pattern of Primary Failure of Eruption (PFE) in a small family with incomplete penetrance of PFE and a novel nonsense PTH1R variant. Case presentation The proband, a 26 year-old man with a significant bilateral open-bite, was di...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-11-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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