Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Panagiotou ES et al.
Molecular Vision, 2022
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.
Deepthi A et al.
Ophthalmic Genetics, 2021
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma.
Lu SY et al.
Investigative Ophthalmology & Visual Science, 2019
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
Homozygous truncation of SIX6 causes complex microphthalmia in humans.
Aldahmesh MA et al.
Clinical Genetics, 2013
Select a paper to view details