A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical S...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Kusano, Chieko, Takagi, Masaki, Hori, Naoaki, Murotsuki, Jun, Nishimura, Gen, Hasegawa, Tomonobu
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5332300/
https://ncbi.nlm.nih.gov/pubmed/28265456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.3
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