Mayuko Tamura
Tokyo, Japan
Last Updated: 09/26/2026
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Found 8 publications
A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.
Journal: Hormone research in paediatrics
Published: November 23, 2023
Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: October 14, 2019
Familial dysalbuminemic hyperthyroxinemia in a 12-year-old girl.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: October 30, 2018
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Journal: Human genome variation
Published: December 12, 2016
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance.
Journal: Bone reports
Published: April 16, 2015
Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
Journal: PloS one
Published: January 31, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026