Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.

Diociaiuti, A; Pisaneschi, E; Rossi, S; Condorelli, A G; Carnevale, C; Zambruno, G; El Hachem, M

Diociaiuti, A; Pisaneschi, E; Rossi, S; Condorelli, A G; Carnevale, C; Zambruno, G; El Hachem, M.

Afiliación

Diociaiuti A; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pisaneschi E; Medical Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Rossi S; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Condorelli AG; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Carnevale C; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Zambruno G; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
El Hachem M; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

J Eur Acad Dermatol Venereol ; 34(11): e694-e697, 2020 Nov.

Article en En | MEDLINE | ID: mdl-32176379

Asunto(s)

Epidermólisis Ampollosa Simple; Epidermólisis Ampollosa; Proteínas Adaptadoras Transductoras de Señales/genética; Epidermólisis Ampollosa Simple/diagnóstico; Epidermólisis Ampollosa Simple/genética; Humanos; Recién Nacido; Italia; Mutación; Linaje

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Simple / Epidermólisis Ampollosa Tipo de estudio: Diagnostic_studies / Systematic_reviews Límite: Humans / Newborn País/Región como asunto: Europa Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2020 Tipo del documento: Article País de afiliación: Italia

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