Results 141 to 150 of about 2,763 (196)

Efficient Dual Cas9 Nickase Correction of a Prevalent Pathogenic LAMB 3 Variant for Junctional Epidermolysis Bullosa. [PDF]

JID Innov
du Rand A, Hunt J, Verdon D, Buttle B, Dunbar PR, Purvis D, Feisst V, Sheppard H.   +7 more
europepmc   +1 more source

Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays. [PDF]

NPJ Genom Med
Chen F, Wei R, Wang Y, Cao Q, Wang J, Wang C, Yao D, Yao Z, Ni C, Li M.   +9 more
europepmc   +1 more source

Compound Heterozygous Null Variants in <i>ITGB4</i> Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature. [PDF]

Int J Genomics
Klangjorhor J, Pomrop M, Thongkumkoon P, Moonsan N, Khiaomai R, Pasena A, Suksakit P, Pruksachatkun C, Tengsujaritkul M.   +8 more
europepmc   +1 more source

Extensive Extragenital Lichen Sclerosus-Like Lesions in a Patient with Junctional Epidermolysis Bullosa. [PDF]

Indian Dermatol Online J
Gupta S, Handa S, Chatterjee D, De D, Mahajan R.   +4 more
europepmc   +1 more source

A case of junctional epidermolysis bullosa with urethral stricture.

Nishi Nihon Hifuka, 1987
ICHIKI, Mikio, HACHISUKA, Hiroshi, SASAI, Yoichiro   +2 more
openaire   +1 more source

Pregnancy-associated blistering in a patient with junctional epidermolysis bullosa. [PDF]

JAAD Case Rep
Hertel L, Hutton M, Bogner P, Grover R, Kuraitis D.   +4 more
europepmc   +1 more source

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