Disease: Optic nerve hypoplasia- familial bilateral
- <em>PAX2</em> variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
- <em>PAX6</em>-Related Aniridia
- A <em>SIX6</em> Nonsense Variant in Golden Retrievers with Congenital Eye Malformations
- ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
- Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
- Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
- Clinical Findings in Family with Aniridia due the PAX6 Mutation
- Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa
- Expanding the mutational spectrum of FHONDA syndrome
- Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females
- Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females
- Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2
- OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY
- PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
- Peripheral retinal nonperfusion associated with optic nerve hypoplasia and lissencephaly
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
- Prevalence and risk factors of superior segmental optic hypoplasia in a Korean population: the Korea National Health and Nutrition Examination Survey
- Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
- The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report
- The microcephaly-capillary malformation syndrome