Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

doi:10.1016/j.matbio.2021.05.002

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Article

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

Matrix biology : journal of the International Society for Matrix Biology - 1 May 2021

Vahidnezhad Hassan, Youssefian Leila, Saeidian Amir Hossein, Boyden Lynn M, Touati Andrew, Harvey Nailah, Naji Mahtab, Zabihi Masoud, Barzegar Mohammadreza, Sotoudeh Soheila, Liu Lu, Guy Alyson, Kariminejad Ariana, Zeinali Sirous, Choate Keith A, McGrath John A, Uitto Jouni

Abstract excerpt

Epidermolysis bullosa (EB) is a genotypically heterogeneous group of disorders characterized by cutaneous blistering and erosions with a tremendous spectrum of severity. One of the distinct forms of EB, Kindler EB (KEB), manifests with blistering and poikiloderma; this subtype of EB is caused by mutations in the FERMT1 gene encoding kindlin-1. In this study, we investigated a patient clinically diagnosed as KEB...

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PMID: 34004352
DOI: 10.1016/j.matbio.2021.05.002

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