Ontology highlight
ABSTRACT:
SUBMITTER: Schlottmann PG
PROVIDER: S-EPMC10202926 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
Schlottmann Patricio G PG Luna José D JD Labat Natalia N Yadarola María Belén MB Bainttein Silvina S Esposito Evangelina E Ibañez Agustina A Barbaro Evangelina Ivón EI Álvarez Mendiara Alejandro A Picotti Carolina P CP Chirino Misisian Andrea A Andreussi Luciana L Gras Julieta J Capalbo Luciana L Visotto Mauro M Dipierri José E JE Alcoba Emilio E Fernández Gabrielli Laura L Ávila Silvia S Aucar María Emilia ME Martin Daniel M DM Ormaechea Gerardo Juan GJ Inga M Eugenia ME Francone Aníbal A AA Charles Martin M Zompa Tamara T Pérez Pablo Javier PJ Lotersztein Vanesa V Nuova Pedro J PJ Canonero Ivana B IB Mahroo Omar A OA Michaelides Michel M Arno Gavin G Daich Varela Malena M
NPJ genomic medicine 20230522 1
This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of ...[more]