Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lysanne Girard"'
Autor:
Carol-Ann Fortin, Lysanne Girard, Chloé Bonenfant, Josianne Leblanc, Tania Cruz-Marino, Marie-Eve Blackburn, Mathieu Desmeules, Luigi Bouchard
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundVitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its preva
Externí odkaz:
https://doaj.org/article/66fda7c19d714e268e30debb6276c65b
Autor:
Tania Cruz Marino, Josianne Leblanc, Annabelle Pratte, Jessica Tardif, Marie‐Jacqueline Thomas, Carol‐Ann Fortin, Lysanne Girard, Luigi Bouchard
Publikováno v:
American Journal of Medical Genetics Part A. 191:1145-1163
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbb73e14ed96bfb039183e46b585afc3
https://doi.org/10.1002/ajmg.a.63147
https://doi.org/10.1002/ajmg.a.63147