Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.


Autoria(s): C Silveira K.; C Bonadia L.; Superti-Furga A.; R Bertola D.; A L Jorge A.; P Cavalcanti D.
Data(s)

2015

Identificador

http://serval.unil.ch/?id=serval:BIB_B5F8AE6D757E

isbn:1552-4833 (Electronic)

pmid:25735649

doi:10.1002/ajmg.a.36954

isiid:000352019000038

Idioma(s)

en

Fonte

American Journal of Medical Genetics. Part A, vol. 167, no. 4, pp. 894-901

Tipo

info:eu-repo/semantics/article

article