HIGHLIGHTS
- who: Moe Akahira-Azuma from the Division of Medical Genetics, Kanagawa Children`s Medical Center, Yokohama, Japan have published the paper: Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita, in the Journal: (JOURNAL) of 24/Oct/2021
SUMMARY
G474V (novel) Gene mutation (COL2A1:NM_001844.5) Clinical manifestations and COL2A1 variants of five Japanese children with spondyloepiphyseal dysplasia congenita. The authors confirmed the diagnosis based on the identification of COL2A1 pathogenic variants by NGS and Sanger sequencing. The mother of Patient 2 was also affected by SEDC. Her first child was a . . .
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