Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Diociaiuti, Andrea; El Hachem, May; Pisaneschi, Elisa; Giancristoforo, Simona; Genovese, Silvia; Sirleto, Pietro; Boldrini, Renata; Angioni, Adriano

Diociaiuti, Andrea; El Hachem, May; Pisaneschi, Elisa; Giancristoforo, Simona; Genovese, Silvia; Sirleto, Pietro; Boldrini, Renata; Angioni, Adriano.

Afiliación

Diociaiuti A; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. andrea.diociaiuti@opbg.net.
El Hachem M; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. may.elhachem@opbg.net.
Pisaneschi E; Molecular Genetics Laboratory, Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. elisa.pisaneschi@opbg.net.
Giancristoforo S; Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. simona.giancristoforo@opbg.net.
Genovese S; Molecular Genetics Laboratory, Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. silvia.genovese@opbg.net.
Sirleto P; Molecular Genetics Laboratory, Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. pietro.sirleto@opbg.net.
Boldrini R; Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. renata.boldrini@opbg.net.
Angioni A; Molecular Genetics Laboratory, Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. adriano.angioni@opbg.net.

Orphanet J Rare Dis ; 11: 4, 2016 Jan 13.

Article en En | MEDLINE | ID: mdl-26762237

Asunto(s)

Ictiosis/diagnóstico; Técnicas de Diagnóstico Molecular/métodos; Adolescente; Adulto; Anciano; Niño; Preescolar; Femenino; Estudios de Asociación Genética; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Ictiosis/genética; Ictiosis/metabolismo; Lactante; Masculino; Persona de Mediana Edad; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Técnicas de Diagnóstico Molecular / Ictiosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

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