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MEN syndrome is one of the most important familial causes of neuroendocrine tumours.
Familial causes of breast cancer are almost exclusively related to BRCA1 and BRCA2, genes involved in the homologous recombination-mediated DNA repair.
In our reported patient, among the entire panel of familial causes of FSGS, we tested only NPHS2 gene and ruled out podocin mutation and, therefore, the possibility of the presence of other familial causes of FSGS is not entirely ruled out.
However, idiopathic epilepsy could imply a potential genetic background and in veterinary medicine the terms idiopathic or primary are generally used for any epilepsy of unidentified etiology even if no genetic or familial causes are suspected [ 5].
Although the majority of ALS cases are sporadic, up to 10% are inherited, with mutations in over two-dozen genes accounting for the majority of familial causes (Robberecht and Philips, 2013).
While one way or the other SAI tackled some relevant individual and familial causes of school disengagement, sweeping social processes through which children miss classes and eventually drop out of school remain outside of the reach of the model (e.g. poverty and child labor).
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Genetic counseling did not identify a familial cause.
Motor neuron degeneration in amyotrophic lateral sclerosis (ALS) has a familial cause in 10% of patients.
Most paragangliomas are sporadic, with only 7 9% having a familial cause.
Non-familial causes are numerous and include myocarditis and drug causes.
There is no data concerning familial cases caused by ATP1A2 mutations (FHM2); however, a delusional misidentification syndrome was described in one sporadic case [8].
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CEO of Professional Science Editing for Scientists @ prosciediting.com