Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes

INTRODUCTION: Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosi...

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Detalles Bibliográficos
Autores principales: Griffin, Tomás P, Joyce, Caroline M, Alkanderi, Sumaya, Blake, Liam M, O’Keeffe, Derek T, Bogdanet, Delia, Islam, Md Nahidul, Dennedy, Michael C, Gillan, John E, Morrison, John J, O’Brien, Timothy, Sayer, John A, Bell, Marcia, O’Shea, Paula M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354719/
https://www.ncbi.nlm.nih.gov/pubmed/32375123
http://dx.doi.org/10.1530/EC-20-0150

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