ArticleEndocrine2011
Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene.
Article in Endocrine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin D3-Resistant Rickets.Journal of clinical research in pediatric endocrinology · 2017Article
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.Bone research · 2016Article
- Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Molecular genetics and metabolism · 2014Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary vitamin D-resistant rickets (HVDRR), an autosomal recessive disorder caused by inactivating mutations in the vitamin D receptor (VDR) gene. We identified two affected children from the same family, one at the age of 10 years and 9 months and the other at 9 months old. Mutation analysis by PCR-sequencing the entire coding region of the VDR gene revealed a homozygous C to T transition in exon 2 of the VDR gene (c.148C>T) resulting in a stop codon at amino acid position 50 (p.R50X) in the proband and his younger sister. The p.R50X has never been previously described. Both asymptomatic parents were heterozygous for the mutation. In addition to most of the clinical features of HVDRR including total alopecia, symptoms of hypocalcemia at a later onset and normophosphatemia, rarely found in HVDRR were present in the proband. This study also emphasizes an important role of genetic testing for early diagnosis and genetic counseling.
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