Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Diociaiuti, A; Pisaneschi, E; Zambruno, G; Angioni, A; Novelli, A; Boldrini, R; El Hachem, M

Diociaiuti, A; Pisaneschi, E; Zambruno, G; Angioni, A; Novelli, A; Boldrini, R; El Hachem, M.

Diociaiuti A; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pisaneschi E; Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Zambruno G; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Angioni A; Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Novelli A; Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Boldrini R; Department of Pathology, 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 ; 32(3): e110-e112, 2018 Mar.

Article en En | MEDLINE | ID: mdl-28983987

Asunto(s)

Genes Recesivos; Ictiosis Lamelar/genética; Lipasa/genética; Mutación Missense; Hermanos; Preescolar; Femenino; Humanos; Italia

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ictiosis Lamelar / Mutación Missense / Hermanos / Genes Recesivos / Lipasa Límite: Child, preschool / Female / Humans País como asunto: Europa Idioma: En Año: 2018 Tipo del documento: Article

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