Informazioni

Diagnostic approaches


There are multiple approaches to get a diagnose. You can try to do it prior to birth, as early as possible. After birth you can get a clinical diagnose (by visual observation and by diagnoses of body defects). The definitive diagnose can be confirmed by molecular testing the genes for a mutation (since 2007).


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                     


 

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