Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
Karina C
KC
Silveira
Luciana C
LC
Bonadia
Andrea
A
Superti-Furga
Débora R
DR
Bertola
Alexander A L
AA
Jorge
Denise P
DP
Cavalcanti
D002648:Child; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D055815:Young Adult
C499177:COL2A1 protein, human; D024043:Collagen Type II