Evidence map›Paper›PMID 42123592›Full record

ArticleInternational journal of molecular sciences2026

Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series.

Fernando Alexis Flores-Leura, Sinhue Alejandro Brukman-Jiménez, Alfredo Corona-Rivera, Idalid Cuero-Quezada, José de Jesús Pérez-Becerra, Juan Antonio Ramírez-Corona, Víctor Ulises Rodríguez-Machuca, María Magdalena Ortiz-Sandoval, Fátima Jazmín Hinojosa-Piña, Olga Lidia Navarro-Barba and 2 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 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
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Fernando Alexis Flores-LeuraHuman Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0001-9255-5385
Sinhue Alejandro Brukman-JiménezCytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.ORCID 0000-0002-2715-7003
Alfredo Corona-RiveraHuman Genetics Institute "Dr. Enrique Corona Rivera", Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Idalid Cuero-QuezadaHuman Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
José de Jesús Pérez-BecerraHuman Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0002-1277-2687
Juan Antonio Ramírez-CoronaHuman Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0002-5131-139X
Víctor Ulises Rodríguez-MachucaHuman Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0001-6369-0123
María Magdalena Ortiz-SandovalTransplant Unit of Henatopoietic Progenitor, Pediatric Hematology and Oncology Department, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.
Fátima Jazmín Hinojosa-PiñaCentro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Olga Lidia Navarro-BarbaDivision of Auxiliary Diagnostic and Treatment Services, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.
Jorge Román Corona-RiveraHuman Genetics Institute "Dr. Enrique Corona Rivera", Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Lucina Bobadilla-MoralesHuman Genetics Institute "Dr. Enrique Corona Rivera", Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fanconi anemia (FA) is a rare inherited disorder characterized by genomic instability, congenital anomalies, and progressive bone marrow failure; such manifestations may vary across populations, partly due to differences in genetic background. This study aims to describe the clinical and molecular spectrum of FA in Mexican patients. A total of 14 patients with clinical suspicion of FA were evaluated; cytogenetic and molecular analyses were successfully performed using MLPA and NGS. Clinically, short stature was present in 100% (n = 14) of the patients, followed by upper limb abnormalities, which were present in 78.6% (n = 11) of the patients, and microphthalmia, which was present in 71.4% (n = 10) of the patients. Molecular analysis identified pathogenic variants in

Indexed as

Fanconi AnemiaAdolescentChildChild, PreschoolFanconi Anemia Complementation Group A ProteinFanconi Anemia Complementation Group C ProteinFemaleHumansInfantMaleMexicoMutationPhenotypeFANCA protein, humanFanconi Anemia Complementation Group A ProteinFanconi Anemia Complementation Group C Proteincase seriesFANCAFANCCFANCEFanconi anemiaMexico

Identifiers

PMID42123592
PMCPMC13163283

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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.