Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients | Zendy

Annagiusi Gargiulo | Zendy; Francesco Testa | Zendy; Settimio Rossi | Zendy; Valentina Di Iorio | Zendy; Simona Fecarotta | Zendy; Teresa de Berardinis | Zendy; Antonello Iovine | Zendy; Adriano Magli | Zendy; Sabrina Signorini | Zendy; Elisa Fazzi | Zendy; Maria Silvana Galantuomo | Zendy; Maurizio Fossarello | Zendy; Sandro Montefusco | Zendy; Alfredo Ciccodicola | Zendy; Alberto Neri | Zendy; Claudio Macaluso | Zendy; Francesca Simonelli | Zendy; Enrico Maria Surace | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

Author(s) -

Annagiusi Gargiulo,

Francesco Testa,

Settimio Rossi,

Valentina Di Iorio,

Simona Fecarotta,

Teresa de Berardinis,

Antonello Iovine,

Adriano Magli,

Sabrina Signorini,

Elisa Fazzi,

Maria Silvana Galantuomo,

Maurizio Fossarello,

Sandro Montefusco,

Alfredo Ciccodicola,

Alberto Neri,

Claudio Macaluso,

Francesca Simonelli,

Enrico Maria Surace

Publication year - 2010

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.10-6091

Subject(s) - albinism , oculocutaneous albinism , hypopigmentation , genetics , allele , ophthalmology , mutation , fundus (uterus) , medicine , biology , dermatology , gene

The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research