Ontology highlight
ABSTRACT:
SUBMITTER: Henderson CM
PROVIDER: S-EPMC7898410 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Henderson Clark M CM Fink Susan L SL Bassyouni Hanan H Argiropoulos Bob B Brown Lindsay L Laha Thomas J TJ Jackson Konner J KJ Lewkonia Raymond R Ferreira Patrick P Hoofnagle Andrew N AN Marcadier Julien L JL
The New England journal of medicine 20190301 12
A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation. Liquid chromatography-tandem mass spectrometry showed the absence of circulating vitamin D-binding protein, and chromosomal microarray confirmed a homozygous deletion of the group-specific component (<i>GC</i>) gene that encodes the protein. Congenital absence of vitamin D-binding protein resulted in ...[more]