A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene. En savoir plus sur A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial. En savoir plus sur Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.
[Optic disc drusen in children: Advantages of various imaging modalities]. En savoir plus sur [Optic disc drusen in children: Advantages of various imaging modalities].
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients. En savoir plus sur Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Extreme myopia in a family with a missense PAX6 mutation: extended phenotype. En savoir plus sur Extreme myopia in a family with a missense PAX6 mutation: extended phenotype.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. En savoir plus sur Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. En savoir plus sur Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.