Evidence map›Paper›PMID 35385210›Full record

ArticleAmerican journal of medical genetics. Part A2022

MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

Nishitha R Pillai, Dana Miller, Grace Bronken, Amrita Kahlon Salunke, Anjali Aggarwal

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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

5 authors at 2 institutions in 1 country.

Nishitha R PillaiDivision of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0002-2943-2136
Dana MillerM-Health Fairview, Minneapolis, Minnesota, USA.ORCID 0000-0001-6872-4257
Grace BronkenM-Health Fairview, Minneapolis, Minnesota, USA.ORCID 0000-0001-5316-0882
Amrita Kahlon SalunkeDivision of Pediatric Gastroenterology, Hepatology and Nutrition, University of Minnesota, Minneapolis, Minnesota, USA.
Anjali AggarwalDivision of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0002-4683-0806
University of Minnesota · USFairview Health Services · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hardikar syndrome (HS) is a MED12-related ultra-rare multiple congenital malformation syndrome known to affect the gastrointestinal, cardiac, and genitourinary systems among other features including cleft lip/palate and pigmentary retinopathy. Only 10 patients affected with HS have been previously described in literature, of which seven were molecularly confirmed. We report a 20-year-old and a 13-month-old patient with HS diagnosed by exome sequencing bringing the total number of clinically diagnosed cases to 12 and MED12 associated to 9. We describe previously unreported molecular and clinical findings associated with HS and review all reported cases to permit prompt diagnosis, appropriate management, and genetic counseling of HS patients.

Indexed as

Abnormalities, MultipleCholestasisCleft LipCleft PalateRetinitis PigmentosaHumansInfantMediator ComplexMED12 protein, humanMediator ComplexaneurysmcholangiocarcinomaHardikar syndromeMED12X inactivation

Identifiers

PMID35385210
PMCPMC9324214
OpenAlexW4226003025

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.