Results 131 to 140 of about 27,311 (150)

Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction. [PDF]

JAAD Case Rep
Alshihry H, AlGhamdy SD, Alhashem A, Almohanna HM.   +3 more
europepmc   +1 more source

Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.

JAMA Dermatol, 2022
Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M.   +11 more
europepmc   +1 more source

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report. [PDF]

Pediatr Dermatol
Goldoni M, Torres B, Pettinato M, Gennaro A, Biagini T, Condorelli AG, Monetta R, Mazza T, Bernardini L, Mattina T.   +9 more
europepmc   +1 more source

Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report. [PDF]

JAAD Case Rep
Widhiati S, Pradipta NK, Purnomosari D, Danarti R, Anggraini A, Palupi-Baroto R, Trisnowati N.   +6 more
europepmc   +1 more source

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Leading edge: emerging drug, cell, and gene therapies for junctional epidermolysis bullosa

Expert Opinion on Biological Therapy, 2020
Jakub Tolar, Christen L Ebens, Allison Macaulay   +2 more
exaly  

Upper Airway Complications of Junctional Epidermolysis Bullosa

Journal of Pediatrics, 2012
Jonathan B Ida, Ravindhra G Elluru, Richard G Azizkhan   +2 more
exaly  

Extent of Laminin-5 Assembly and Secretion Effect Junctional Epidermolysis Bullosa Phenotype

Journal of Experimental Medicine, 1998
David Woodley, Warren Hoeffler, Masaaki Morohashi   +2 more
exaly  

Junctional Epidermolysis Bullosa of the Larynx

Pediatrics, 1986
Sylvan E Stool, Susan B Mallory
exaly  

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology, 2016
Cristina Has, Leena Bruckner-Tuderman, Johanna Hammersen   +2 more
exaly  

Japanese guidelines for diagnosis and treatment of junctional and dystrophic epidermolysis bullosa

Archives of Dermatological Research, 2003
Katsuto Tamai, Isao Hashimoto
exaly