Ying Su Chun-Qiong Ran Zhe-Long Liu Yan Yang Gang Yuan Shu-Hong Hu Xue-Feng Yu Wen-Tao He
10.3389/fgene.2023.1154087
Front Genet
2023 Jun 6;14:1154087.
col11a2 case report genetic counseling splicing mutation type 3 stickler syndrome
CC BY
https://pubmed.ncbi.nlm.nih.gov/37347055/
Case Reports
PMC10279880
37347055
Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
2023