Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier.

Cowan, Timothy L; Sundberg, John P; Roopenian, Derry C; Sproule, Thomas J; Murrell, Dédée F

Phenotypic differences in intermediate generalized junctional epidermolysis bullosa with homozygous LAMC2 mutation and a potential genetic modifier.

Cowan, Timothy L; Sundberg, John P; Roopenian, Derry C; Sproule, Thomas J; Murrell, Dédée F.

Afiliação

Cowan TL; Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia.
Sundberg JP; Faculty of Medicine, UNSW, Sydney, New South Wales, Australia.
Roopenian DC; The Jackson Laboratory, Bar Harbor, Maine, USA.
Sproule TJ; The Jackson Laboratory, Bar Harbor, Maine, USA.
Murrell DF; The Jackson Laboratory, Bar Harbor, Maine, USA.

J Eur Acad Dermatol Venereol ; 38(8): e719-e721, 2024 Aug.

Article em En | MEDLINE | ID: mdl-38376117

Assuntos

Epidermólise Bolhosa Juncional; Homozigoto; Laminina; Mutação; Fenótipo; Humanos; Epidermólise Bolhosa Juncional/genética; Epidermólise Bolhosa Juncional/patologia; Laminina/genética; Masculino; Feminino

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Epidermólise Bolhosa Juncional / Laminina / Homozigoto / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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