Hur diagnosticerar man Saethre-Chotzens syndrom?

Läs om hur Saethre-Chotzens syndrom diagnosticeras. Vilka specialister kan man behöva träffa, vilka tester kan behöva göras och annan viktig information om diagnosen Saethre-Chotzens syndrom

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It can be visually diagnosed, but diagnosis is confirmed through genetic testing to check for the deletion or mutation of chromosome 7p21 with the TWEDT gene. Most people with SCS have a single large deletion in the region 7p21. which co n rains the code for the TWIST Gene.

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