Article
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.
European journal of pediatrics - 1 Aug 2018
van Trier Dorothée C, van der Burgt Ineke, Draaijer Renske W, Cruysberg Johannes R M, Noordam Cees, Draaisma Jos M
Abstract excerpt
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; range, 0-60 years) clinically diagnosed as Noonan syndrome. The ocular findings were linked to the genotypes. All...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.