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
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.
Min HY et al.
Chinese Medical Journal, 2016
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2009
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