Results 111 to 120 of about 21,752 (228)
Enamel Defects in Carriers of a Novel LAMA3 Mutation Underlying Epidermolysis Bullosa [PDF]
, 2012 Jonkman, MF +3 more
core +2 more sources
Dermatose Bolhosa Dermolítica Recessiva - relato de dois casos. [PDF]
, 1985 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Santos, Carlos Alberto H dos
core
BMC PediatricsEpidermolysis Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB.
Fatma Mabrouk Ali +6 more
doaj +1 more source
Metaplastic Conditions in The Bladder in Patient With Epidermolysis Bullosa
International Brazilian Journal of UrologyEpidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presents with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological
Kenan Yilmaz +3 more
doaj +1 more source
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex [PDF]
, 2017 PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common ...
Castañón, Maria J. +8 more
core
Esophagitis and almost complete esophageal occlusion in a girl with epidermolysis bullosa
The Turkish Journal of Pediatrics, 2012 Epidermolysis bullosa is a genetically transmitted skin disorder that typically manifests with trauma-induced skin blistering, scarring and in some cases mucosal involvement. Esophageal webs, strictures or stenosis can be found in about a third of
Zlatko Djurić +2 more
doaj