Article
Eye development genes and known syndromes.
Molecular genetics and metabolism - 1 Dec 2011
Slavotinek Anne M
Abstract excerpt
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.