Article

‘Insights into Fanconi Anemia based on molecular and clinical characteristics: A multicentre study of 13 Patients’

2025-02-12

Abstract excerpt

<h4>Background: </h4> : Fanconi anemia (FA) is a rare genomic instability disorder, characterized by congenital abnormalities, progressive bone marrow failure and predisposition to cancer. FA is caused by (likely) pathogenic variants in any of the 23 ( FANCA-FANCY ) linked genes. Procedure : Retrospective analysis of 13 FA patients with a causative variant was performed to allow insights into FA. Patients (6 boy...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 286c5f08-493e-5f50-b501-8a29e25e2696
DOI: 10.22541/au.173934732.24928571/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

‘Insights into Fanconi Anemia based on molecular and clinical characteristics: A multicentre study of 13 Patients’DOI 10.22541/au.173934732.24928571/v1Read

[Fanconi anemia in 2012: diagnosis, pediatric follow-up and treatment].Semantic proximity Read

Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Semantic proximity Read

Fanconi AnemiaSemantic proximity Read

Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studiesSemantic proximity Read

Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.Semantic proximity Read

Current clinical management of Fanconi anemia.Semantic proximity Read

Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.Semantic proximity Read

Fanconi anaemia and leukaemia – clinical and molecular aspectsSemantic proximity Read

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.Semantic proximity Read

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.Semantic proximity Read

How I manage patients with Fanconi anaemia.Semantic proximity Read

[From gene to disease: Fanconi anemia].Semantic proximity Read