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Article

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

Frontiers in endocrinology - 1 Jan 2022

Al Homyani Doua Khalid, Alhemaiani Shahad Khalid

Abstract excerpt

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 diagnosis. Case Presentation: This is a case report of VDDR1A in a 4-year-old boy who presented with delayed growth,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35663328
DOI: 10.3389/fendo.2022.862022
PMCID: PMC9157501

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