A second report of p.Pro986Leu variant inCOL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35793/fullpdf
Reference4 articles.
1. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene;Hoornaert;J Med Genet,2006
2. Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenital and pseudoachondroplasia;Horton;Am J Dis Child,1982
3. Association of a p.Pro786Leu variant in COL2A1 with mild Spondyloepiphyseal Dysplasia Congenita in a three-generation family;Mark;Am J Med Genet Part A,2011
4. Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1;Zankl;Am J Med Genet Part A,2004
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2. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita;Molecular Genetics & Genomic Medicine;2020-01-23
3. Brain biomarkers and pre-injury cognition are associated with long-term cognitive outcome in children with traumatic brain injury;BMC Pediatrics;2017-07-24
4. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report;BMC Pediatrics;2017-07-24
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