Results 81 to 90 of about 10,524 (180)

Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmia. [PDF]

J Med Genet
Seese SE, Reis LM, Schneider A, Bardakjian T, Semina EV.   +4 more
europepmc   +1 more source

The cave coloboma

Eye
Sandeep Kumar, Varshini Shankar, Daraius Shroff   +2 more
openaire   +3 more sources

Isolated Lenticular Coloboma in an Atypical Location With Early Cataract Formation: A Case Report. [PDF]

Cureus
Noori SH, Nomikarios M, Anikina E.
europepmc   +1 more source

Iridolenticular coloboma with butterfly shaped chorioretinal coloboma

Indian Journal of Ophthalmology - Case Reports, 2022
Ekta Gupta, Rajwinder Kaur, Balbir Khan, null Anupriya   +3 more
openaire   +1 more source

Atypical superotemporal iris and retinal coloboma. [PDF]

Am J Ophthalmol Case Rep
Patterson KN, Reynolds MM, Lueder GT.
europepmc   +1 more source

Coloboma

, 2021
openaire   +1 more source

Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies. [PDF]

Eur J Hum Genet
Ceroni F, Reis LM, Watkins F, Bax DA, Fischer MC, Jeganathan K, Jewell R, Martin JS, Salt A, Seese SE, Thomson J, Semina EV, Ragge NK.   +12 more
europepmc   +1 more source

ABCA4-associated maculopathy suspected to be ocular toxoplasmosis. [PDF]

BMC Ophthalmol
Elsayed MEAA, Barone V, MacLaren RE.
europepmc   +1 more source

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD. [PDF]

Clin Case Rep
Sultana N, Mamun AA, Begum A.
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies. [PDF]

Clin Genet
Chesneau B, Willems M, Bouazzaoui A, Lequeux L, Plaisancié J, El Chehadeh S, Dollfus H, Chassaing N.   +7 more
europepmc   +1 more source