Results 141 to 150 of about 81,034 (193)

Two missense mutations in Dystonin lead to epidermolysis bullosa simplex complicated with lepromatous leprosy: a case report. [PDF]

AME Case Rep
Al-Quran L, Cai G, Chen R, Chen Y.
europepmc   +1 more source

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in the <i>DST</i> gene: the first Italian case and literature review. [PDF]

Dermatol Reports
Diociaiuti A, Zingarelli RD, D'Urso DF, Zambruno G, El Hachem M.   +4 more
europepmc   +1 more source

Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies. [PDF]

Acta Derm Venereol
Pironon N, Welfringer-Morin A, Leclerc-Mercier S, Bourrat E, Hovnanian A.   +4 more
europepmc   +1 more source

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex. [PDF]

Acta Derm Venereol, 2020
Tu WT, Chen PC, Hou PC, Huang HY, Wang JY, Chao SC, Lee JY, McGrath JA, Natsuga K, Hsu CK.   +9 more
europepmc   +1 more source

Epidermolysis bullosa simplex superficialis [PDF]

, 2020
openaire   +1 more source

Advanced gene-editing strategy for epidermolysis bullosa simplex. [PDF]

Mol Ther
Sheriff A, Jacków-Malinowska J.
europepmc   +1 more source

Localized epidermolysis bullosa simplex [PDF]

, 2020
openaire   +1 more source

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families. [PDF]

Front Med (Lausanne)
Kotalevskaya YY, Stepanov VA.
europepmc   +1 more source

Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.

JAMA Dermatol, 2022
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ.   +17 more
europepmc   +1 more source