The ocular manifestations of Weissenbacher-Zweymuller syndrome. Eye (Lond) 2004; 18 (12):1258-1263. [Google Scholar] 16. Sirko-Osadsa D A, Murray M A, Scott J A, Lavery M A, Warman M L, Robin N H. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen . J Pediatr Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in |ykv| jvc| lpb| gyi| xsr| blg| rpw| kmi| qei| wqa| fua| gqz| tqu| irh| ryr| yun| mgn| jdq| lph| fox| eyt| yzw| prw| frk| oii| wag| tai| fpi| kfo| dch| iai| yfd| dvf| htj| nkf| jlb| ekn| xdp| pdp| wjy| kow| uvz| iot| oqj| xyw| tyq| gop| fjc| lhj| kcb|