TY  - GEN
AU  - Zheng,Wen-Bin
AU  - Li,Lu-Jiao
AU  - Zhao,Di-Chen
AU  - Wang,Ou
AU  - Jiang,Yan
AU  - Xia,Wei-Bo
AU  - Xing,Xiao-Ping
AU  - Li,Mei
TI  - Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
SN  - 2324-9269
PY  - 2021///0329
KW  - Adult
KW  - Child, Preschool
KW  - Collagen Type II
KW  - chemistry
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - genetics
KW  - Pedigree
KW  - Phenotype
KW  - Protein Domains
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/mgg3.1139
ER  -