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

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...

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Detalhes bibliográficos

Principais autores:	Uppala Ratnamala, Nayan K Jain, Devendrasinh D Jhala, Pullabatla V S. Prasad, Nazia Saiyed, Sreelatha Nair, Uppala Radhakrishna
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wolters Kluwer Medknow Publications 2023-01-01
coleção:	Indian Journal of Dermatology
Assuntos:	chronic skin disorders genetic heterogeneity hidradenitis suppurativa ncstn gene mutation
Acesso em linha:	http://www.e-ijd.org/article.asp?issn=0019-5154;year=2023;volume=68;issue=2;spage=141;epage=147;aulast=Ratnamala
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