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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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Detalles Bibliográficos
Autores principales: Ratnamala, Uppala, Jain, Nayan K., Jhala, Devendrasinh D, Prasad, Pullabatla V.S., Saiyed, Nazia, Nair, Sreelatha, Radhakrishna, Uppala
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238988/
https://www.ncbi.nlm.nih.gov/pubmed/37275792
http://dx.doi.org/10.4103/ijd.ijd_995_21