ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.5-4 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

CM Henderson , SL Fink , H Bassyouni , B Argiropoulos , L Brown , TJ Laha , KJ Jackson , R Lewkonia , P Ferreira , AN Hoofnagle , JL Marcadier

Abstract: N Engl J Med. 2019;380(12):1150–1157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin D–binding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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