Article
A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.
Clinical genetics - 1 Aug 2020
Nemer Georges, El-Hachem Nehme, Eid Edward, Hamie Lamiaa, Bardawil Tara, Khalil Samar, El-Rassy Inaam, Safi Remi, Khalil Athar, Abbas Ossama, Shimomura Yutaka, Kurban Mazen
Abstract excerpt
Discoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and RNA sequencing technologies to characterize a consanguineous Lebanese family with four affected individuals who presented with classical scalp DLE and generalized folliculitis. Our results...
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