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ey0017.5-6 | Advances in Clinical Practice | ESPEYB17

5.6. Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

A Kampe , M Enlund-Cerullo , S Valkama , E Holmlund-Suila , J Rosendahl , H Hauta-Alus , M Pekkinen , S Andersson , O Makitie

To read the full abstract: PLoS Genet. 2019 Dec 16;15(12):e1008530.In brief: This genome-wide association study in a cohort of healthy infants shows that, already during the first two years of life, genetic variation in the genes encoding Vitamin D binding protein and Vitamin D 25-hydroxylase correlate with serum 25(OH)D levels and responses to vitamin D supplementation.<p clas...

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ey0016.5-5 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

M Pekkinen , PA Terhal , LD Botto , P Henning , RE Makitie , P Roschger , A Jain , M Kol , MA Kjellberg , EP Paschalis , K van Gassen , M Murray , P Bayrak-Toydemir , MK Magnusson , J Jans , M Kausar , JC Carey , P Somerharju , UH Lerner , VM Olkkonen , K Klaushofer , JC Holthuis , O Makitie

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

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ESPE Yearbook of Paediatric Endocrinology

5.6. Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

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