Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --over
|  
|
in patients with FSHD | constitutional
|  
| deletion
|  
|  
|
results in micrognathia and abnormal morphology of the mandibular molars (Mitsiadis 2008) | constitutional
|  
| deletion
| --low
|  
|
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, . | constitutional
|  
|  
| --over
|  
|
upon exposure to genotoxic stress, is associated with marked induction of apoptosis that is independent of TP53 status | |