Results 111 to 120 of about 4,210 (234)
Epidermolytic Hyperkeratosis -NPS 2 Type
Indian Journal of Dermatology, 2004 A case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis or EHK) with some unusual features is described. It was diagnosed in a 6 month old girl with no family history of either EHK or focal lesions suggestive of mosaicism ...
Das Jayanta Kumar
doaj
DNA-based Prenatal Diagnosis of Epidermolytic Palmoplantar Keratoderma in Two Pregnancies at Risk in One large Pedigree [PDF]
, 2001 Jun‐Mo Yang +6 more
openalex +1 more source
A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate [PDF]
, 2023 Eijiro Akasaka +4 more
openalex +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Epidermolytic palmoplantar keratoderma (EPPK) is a rare skin disorder and its pathogenesis and inheritability are unknown. Objective To investigate the inheritance and pathogenesis of EPPK. Methods Two EPPK cases occurred in a three‐generation
Changxing Li +9 more
doaj +1 more source
Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin [PDF]
, 2006 Ana Terron-Kwiatkowski +5 more
openalex +1 more source
Molecular Therapy: Nucleic Acids, 2018 CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders.
Xiao-Rui Luan +7 more
doaj
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma [PDF]
, 2009 Yutaka Shimomura +4 more
openalex +1 more source
The Most Common Mutation of KRT9, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Two Large Chinese Pedigrees [PDF]
, 2012 Wenting Liu +7 more
openalex +1 more source
UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES [PDF]
, 2011 2011-08Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease.
42169, AKIYAMA, MASASHI
core