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Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Montalbano A, et al. Among authors: binder g. EMBO Mol Med. 2016 Dec 1;8(12):1455-1469. doi: 10.15252/emmm.201606623. Print 2016 Dec. EMBO Mol Med. 2016. PMID: 27861128 Free PMC article.
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T. Fukami M, et al. Among authors: binder g. J Clin Endocrinol Metab. 2011 Jun;96(6):E1035-43. doi: 10.1210/jc.2011-0145. Epub 2011 Apr 6. J Clin Endocrinol Metab. 2011. PMID: 21470988
301 results