Associated Papers
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S et al.
Plos One, 2020
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.
Montalbano A et al.
European Journal of Human Genetics : Ejhg, 2018
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Montalbano A et al.
Embo Molecular Medicine, 2016
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