Associated Papers
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
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
Zechi-Ceide RM et al.
Clinical Dysmorphology, 2008
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Thys M et al.
Human Molecular Genetics, 2007
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