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

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

Abstract 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 mod...

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Bibliographic Details
Main Authors: Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold
Format: Article
Language:English
Published: Springer Nature 2016-11-01
Series:EMBO Molecular Medicine
Subjects:
clinical variability
genetic modifiers
limb development
retinoic acid
skeletal dysplasia
Online Access:https://doi.org/10.15252/emmm.201606623

Internet

https://doi.org/10.15252/emmm.201606623

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