Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

The aim of this retrospective study is to describe ocular findings in a large Noonan syndrome cohort and to detect associations between ocular features and genetic mutations that were not found in earlier studies. We collected ophthalmological and genetic data of 105 patients (median age, 12 years;...

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Detalles Bibliográficos
Autores principales: van Trier, Dorothée C., van der Burgt, Ineke, Draaijer, Renske W., Cruysberg, Johannes R. M., Noordam, Cees, Draaisma, Jos M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061046/
https://www.ncbi.nlm.nih.gov/pubmed/29948256
http://dx.doi.org/10.1007/s00431-018-3183-1

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