Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disea...

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Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: Montalbano, Antonino, Juergensen, Lonny, Roeth, Ralph, Weiss, Birgit, Fukami, Maki, Fricke‐Otto, Susanne, Binder, Gerhard, Ogata, Tsutomu, Decker, Eva, Nuernberg, Gudrun, Hassel, David, Rappold, Gudrun A
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5167135/
https://ncbi.nlm.nih.gov/pubmed/27861128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201606623
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