Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease.
Marie-Noëlle MéauxJérôme HarambatAnya RothenbuhlerJuliane LégerPeter KamenickySylvie SoskinOlivia BoyerEmese BorosPascal D'AnellaBrigitte MignotMaite GebhartPhilippe VicNicolas RichardBéatrice Thivichon-PrinceBruno FrancouAgnès LinglartJustine BacchettaArnaud MolinPublished in: The Journal of clinical endocrinology and metabolism (2022)
Overall, our findings highlight good outcomes under substitutive treatment and the need of a closer follow-up of eyes, teeth, kidneys and blood pressure in VDDR1A.