Work

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

Year: 2021

Type: article

Study design: Case Report

Source: Matrix Biology

DOI: 10.1016/j.matbio.2021.05.002

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

Institutions: Thomas Jefferson University, Yale University, Philadelphia College of Osteopathic Medicine, Shahid Beheshti University, Shahid Beheshti University of Medical Sciences, Children's Medical Center, Tehran University of Medical Sciences, St Thomas' Hospital, Pasteur Institute of Iran, King's College London

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Human Genome Research Institute

Award: Yale Center for Mendelian Disorders

OpenAlex ID: W3162896123

FWCI: 0.653

Cites: 32

Cited by: 9

Related to: 10