Associated Papers
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Major review: Molecular genetics of primary open-angle glaucoma.
Liu Y et al.
Experimental Eye Research, 2017
Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.
Shah MH et al.
Molecular Genetics & Genomic Medicine, 2017
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
Carnes MU et al.
Plos Genetics, 2014
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
Aijaz S et al.
Investigative Ophthalmology & Visual Science, 2004
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