Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
|  
|
in some sporadic cases of tetralogy of Fallot | constitutional
|  
| translocation
|  
| loss of function
|
truncated transcript associated with an atrial septal defect and gonadal dysgenesis in 1 patient | constitutional
|  
|  
| --over
|  
|
in cardiomyopathy (Rouf 2008) | constitutional
| germinal mutation
|  
|  
|  
|
result in primary pulmonary and diaphragmatic defects (Ackerman 2005) | |