Evidence map›Paper›PMID 30015621›Full record

ArticleJournal of clinical research in pediatric endocrinology2019

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in

Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.0field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.Molecular genetics and metabolism reports · 2024
    Article
  2. Article
  3. Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023
    Article
  4. PolypeptideMolecules (Basel, Switzerland) · 2021
    Review
  5. A novel homozygous variant in exon 10 of theIntractable & rare diseases research · 2021
    Article
  6. Two new cases of pediatric tumoral calcinosis.Journal of surgical case reports · 2020
    Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Rabia Miray Kışla EkinciÇukurova University Faculty of Medicine, Department of Pediatric Rheumatology, Adana, TurkeyORCID 0000-0001-6234-822X
Fatih GürbüzÇukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, TurkeyORCID 0000-0003-2160-9838
Sibel BalcıÇukurova University Faculty of Medicine, Department of Pediatric Rheumatology, Adana, TurkeyORCID 0000-0003-0099-313X
Atıl BişginÇukurova University Faculty of Medicine, Department of Medical Genetics, Adana, TurkeyORCID 0000-0002-2053-9076
Mehmet TaştanÇukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, TurkeyORCID 0000-0003-4516-743X
Bilgin YükselÇukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, TurkeyORCID 0000-0003-4378-3255
Mustafa YılmazÇukurova University Faculty of Medicine, Department of Pediatric Rheumatology, Adana, TurkeyORCID 0000-0002-6213-8289
Cukurova University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inactivating autosomal recessive mutations in fibroblast growth factor 23

Indexed as

MutationSiblingsCalcinosisChildFamily HealthFemaleFibroblast Growth Factor-23Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansHyperostosis, Cortical, CongenitalHyperphosphatemiaN-AcetylgalactosaminyltransferasesPedigreePolypeptide N-acetylgalactosaminyltransferaseTurkeyFGF23 protein, humanFibroblast Growth Factor-23N-AcetylgalactosaminyltransferasesPolypeptide N-acetylgalactosaminyltransferaseGALNT3hyperphosphatemiatumoral calcinosis

Identifiers

PMID30015621
PMCPMC6398194
OpenAlexW2884068915

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.