Results 171 to 180 of about 332,460 (336)

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama   +6 more
wiley   +1 more source

Firm smooth polypoid nodule within a skin graft

open access: yesJAAD Case Reports, 2023
Sarah Williamson, MD, Stephen Somach, MD
doaj   +1 more source

Abdominal versus femoral subcutaneous fat gene expression in non-obese insulin resistant individuals. [PDF]

open access: yesFront Endocrinol (Lausanne)
Badran S   +13 more
europepmc   +1 more source

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