Disorder "Sclerosteosis"
Found 1 record
Disorder information
Disorder name:
Sclerosteosis
Disoder ID:
Definition:
A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered bone density(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SOST | SOST:c.372G>A(p.Trp124*) | Expressivity | Altered bone density | Gene activity study | The physiological role of SOST is most likely the suppression of bone formation ,increased bone densitymore | more |
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