subject area of
- A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study Journal Articles
- Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome Journal Articles
- Characterization of the Supernumerary Chromosome in Cat Eye Syndrome Journal Articles
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Journal Articles
- Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature. Journal Articles
- Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Journal Articles
- Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases Journal Articles
- Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Journal Articles
- Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Journal Articles
- Morning Glory Anomaly With Bilateral Choroidal Colobomas in a Patient With Goldenhar's Syndrome Journal Articles
- Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis Journal Articles
- The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature Journal Articles