Associated Papers
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
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
Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
Xia XY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.
Meredith SP et al.
The British Journal of Ophthalmology, 2007
[Prenatal diagnosis of two pregnancies with risk of chromosomal disorders].
Cui YX et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2007
Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies.
Chitty LS et al.
Prenatal Diagnosis, 2006
Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
Veeravagu A et al.
World Neurosurgery, 0
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