ArticleMolecular syndromology2020
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
Article in Molecular syndromology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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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
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Longitudinal clinical manifestations of Fanconi anemia: A systematized review.Blood reviews · 2024Pooled it
- Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.MedScience · 2026Article
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation.Acta dermato-venereologica · 2024Article
- Whole exome sequencing of a novel homozygous missense variant inBiomedical reports · 2024Article
- Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.Journal of medical genetics · 2023Article
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.Orphanet journal of rare diseases · 2022Article
- Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.Human molecular genetics · 2022Article
- Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease.Molecular syndromology · 2020Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular findings of 20 distinct FA cases, ages ranging from perinatal stage to 32 years, are presented here. Pathogenic variants in
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Registered trials
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.