Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

• Main Authors: Alessandra Tesser (Author), Erica Valencic (Author), Valentina Boz (Author), Gianluca Tornese (Author), Serena Pastore (Author), Manuela Zanatta (Author), Alberto Tommasini (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deformin...