Expanding the Phenotype Spectrum Associated with Pathogenic Variants in the COL2A1 and COL11A1 Genes
Jana Copikova,Jana Paderova, Vera Romankova,Marketa Havlovicova,Miroslava Balascakova,Michacla Zelinova,Sarka Vejvalkova,Martina Simandlova,Jana Stepankova,Vera Horinova,Eva Kantorova,Gabricla Kreckova,Jana Pospisilova,Arpad Boday,Anna Uhrova Meszarosova,Marek Turnovec,Pavel Votypka,Petra Liskova,Radka Kremlikova Pourova Annals of Human Genetics（2020）
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Marshall syndrome,myopia,nonsyndromic hearing loss,retinal detachment,Stickler syndrome
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