Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
作者信息
Silveira Karina C, Bonadia Luciana C, Superti-Furga Andrea, Bertola Débora R, Jorge Alexander A L, Cavalcanti Denise P
机构信息
Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
出版信息
Am J Med Genet A. 2015 Apr;167A(4):894-901. doi: 10.1002/ajmg.a.36954. Epub 2015 Mar 3.
PMID:25735649
Abstract
摘要
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