ReviewGenes2026
A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature Review.
Max Chauhan, Kaersti L Rickels, Sudhi P Kurup, Brenda L Bohnsack, Alexander Ing, Andy Drackley, Allison Goetsch Weisman, Valerie Allegreti, Kailee Yap, Pamela Rathbun and 4 more
Abstract readCase ReportsReview
In one paragraphReview in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
14 authors.
Max ChauhanDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0009-0007-7284-2433 Kaersti L RickelsFeinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Sudhi P KurupDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0000-0002-6506-1096 Brenda L BohnsackDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0000-0001-8961-6343 Alexander IngDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0000-0001-5233-2937 Andy DrackleyDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0000-0003-1822-1728 Allison Goetsch WeismanDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Valerie AllegretiDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Kailee YapDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Pamela RathbunDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Andrew SkolDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0009-0005-7530-8127 Patrick McMullenDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0000-0002-9635-932X Hantamala Ralay RanaivoDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.ORCID 0000-0003-1907-7625 Jennifer L RossenDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
PubMed holds no abstract for this paper.
Indexed as
CataractProto-Oncogene Proteins c-mafRetinitis PigmentosaHumansMutationPhenotypeSyndromeMAF protein, humanProto-Oncogene Proteins c-mafAymé-Grippcongenital cataractMAFpigmentary retinopathy
Identifiers
PMID42074498
PMCPMC13115653
What OpenQuestion holds
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