A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

Tognetti, Linda; Baldassarri, Margherita; Fava, Francesca; Provvidenziale, Luca; Cinotti, Elisa; Renieri, Alessandra; Rubegni, Pietro

Tognetti, Linda; Baldassarri, Margherita; Fava, Francesca; Provvidenziale, Luca; Cinotti, Elisa; Renieri, Alessandra; Rubegni, Pietro.

Afiliación

Tognetti L; Dermatology Unit, Department of Medical, Surgical and Neurosciences, Siena University Hospital, Italy.
Baldassarri M; Medical Genetics, University of Siena, Siena, Italy.
Fava F; Medical Genetics, University of Siena, Siena, Italy.
Provvidenziale L; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Cinotti E; Dermatology Unit, Department of Medical, Surgical and Neurosciences, Siena University Hospital, Italy.
Renieri A; Dermatology Unit, Department of Medical, Surgical and Neurosciences, Siena University Hospital, Italy.
Rubegni P; Medical Genetics, University of Siena, Siena, Italy.

Pediatr Dermatol ; 37(6): 1205-1206, 2020 Nov.

Article en En | MEDLINE | ID: mdl-32892417

Asunto(s)

Síndrome de la Uña-Rótula; Femenino; Heterocigoto; Humanos; Lactante; Recién Nacido; Proteínas con Homeodominio LIM/genética; Mutación; Síndrome de la Uña-Rótula/diagnóstico; Síndrome de la Uña-Rótula/genética; Factores de Transcripción/genética

Palabras clave

LMX1B; anonychia; genetic diseases/mechanisms; genodermatoses; nail disorders; nail-patella syndrome; triangular lunula

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de la Uña-Rótula Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Pediatr Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Italia

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