Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A.
Méaux MN, et al.
J Clin Endocrinol Metab. 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639.
J Clin Endocrinol Metab. 2023.
PMID: 36321535