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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

Height is a complex quantitative trait with a high heritability. Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. We have recently found that the retinoic acid degrading enzyme CYP26C1 modifies SHOX deficiency phenotyp...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Montalbano, Antonino, Juergensen, Lonny, Fukami, Maki, Thiel, Christian T, Hauer, Nadine H, Roeth, Ralph, Weiss, Birgit, Naiki, Yasuhiro, Ogata, Tsutomu, Hassel, David, Rappold, Gudrun A.
Format: Artigo
Langue:Inglês
Publié: Springer International Publishing 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057989/
https://ncbi.nlm.nih.gov/pubmed/29706635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0148-9
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