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Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report

BACKGROUND: Vitamin D-dependent rickets type 1A (VDDR1A) rickets is an uncommon kind of rickets that affects both boys and girls. Children with mutations are normal at birth and present at around 6 months to 2 years of age with symptoms. When suspected, genetic testing is required to confirm the dia...

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Detalles Bibliográficos
Autores principales:	Al Homyani, Doua Khalid, Alhemaiani, Shahad Khalid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157501/ https://www.ncbi.nlm.nih.gov/pubmed/35663328 http://dx.doi.org/10.3389/fendo.2022.862022

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