Novel and founder pathogenic variants in x-linked alport syndrome families in greece

HIGHLIGHTS

  • who: Despina Hadjipanagi and collaborators from the Syndrome Families in Greece biobankcy Center of Excellence in Biobanking and Biomedical Research, University of have published the research: Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece, in the Journal: (JOURNAL)
  • future: The prospects of avoiding lengthy diagnostic investigations and erroneous medications and the advantage of delaying kidney failure with very early administration of renin-angiotensin-aldosterone system (RAAS) blockade highlights the importance of timely documentation of AS by genetic diagnosis.

SUMMARY

    Alport Syndrome (AS) is a genetically heterogeneous . . .

     

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