subject area of
- A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study Academic Article
- Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome Academic Article
- Bilateral macular colobomas. Academic Article
- Characterization of the supernumerary chromosome in cat eye syndrome Academic Article
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Academic Article
- Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Academic Article
- Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Academic Article
- Morning Glory Anomaly With Bilateral Choroidal Colobomas in a Patient With Goldenhar's Syndrome Academic Article
- Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis Academic Article
- The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature Academic Article