An updated mutation spectrum of the γ-secretase complex: Novel NCSTN gene mutation in an Indian family with hidradenitis suppurativa and acne conglobata

• Main Authors: Uppala Ratnamala (Author), Nayan K Jain (Author), Devendrasinh D Jhala (Author), Pullabatla V S. Prasad (Author), Nazia Saiyed (Author), Sreelatha Nair (Author), Uppala Radhakrishna (Author)
• פורמט: ספר
• יצא לאור: Wolters Kluwer Medknow Publications, 2023-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Background: Hidradenitis suppurativa (HS) is a complex, chronic inflammatory skin disorder whose pathophysiology is poorly understood. Genetic studies have shown that HS is predisposed by mutations in the γ-secretase gene, but only a proportion of familial and partial sporadic cases have been shown...