Associated Papers
Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation.
Wu YC et al.
International Journal of Molecular Sciences, 2025
41373627 (PubMed )
Supplement: ijms-26-11472-s001.zip › Supplementary_Materials_Table_S1.pdf
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Terhal PA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
Zhang Z et al.
Biochemical and Biophysical Research Communications, 2011
The phenotypic spectrum of COL2A1 mutations.
Nishimura G et al.
Human Mutation, 2005
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