| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
in structural and numerical X abnormalities | | constitutional
|
| deletion
|
|
| |
in idiopathic short stature (hot-spot of proximal deletion ) | | constitutional
|
| amplification
|
|
| |
duplication with a variable amount of flanking sequence and unclear clinical significance | | constitutional
|
|
|
| loss of function
|
would create a relatively increased FGFR3 expression in ulna and radius as well as in tibia and fibula, thereby accelerating a fusion of the growth plates and causing a relative shortening of the respective bones  | |
