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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Detalles Bibliográficos
Publicado en:EMBO Mol Med
Autores principales: 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
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea: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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