Associated Papers
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Tsai MM et al.
Human Molecular Genetics, 2026
Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.
Drackley A et al.
Ophthalmology. Retina, 2025
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
Wang DD et al.
Bmc Medical Genetics, 2020
32039712 (PubMed )
Supplement: 12881_2020_963_MOESM1_ESM.xlsx › Sheet1
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP et al.
European Journal of Human Genetics : Ejhg, 2010
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