Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

BMC medical genetics - 1 Jun 2020

Nie Daijing, Zhang Jing, Wang Fang, Zhang Wei, Liu Lili, Chen Xue, Zhang Yang, Cao Panxiang, Xiong Min, Wang Tong, Wu Ping, Ma Xiaoli, Tian Wenjun, Wang Mangju, Chen Kylan N, Liu Hongxing

Abstract excerpt

BACKGROUND: Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA patients. The phenotype and genetic basis of Chinese FA patients have not been investigated yet. METHODS: We analyzed the 22 FA-related genes of 63 BMF patients suspected to be FA. Clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aldehyde Dehydrogenase, Mitochondrial
Share to Bone Marrow

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Breakage

Share to Fanconi Anemia

Share to Genetic Association Studies

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Karyotype

Source

Open in PubMed Open full text

Identifiers

PMID: 32487094
DOI: 10.1186/s12881-020-01057-3
PMCID: PMC7268325

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.PMID 32487094Read ↗

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

Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort.Semantic proximity Read ↗

Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.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 ↗

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.Semantic proximity Read ↗

Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.Semantic proximity Read ↗

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.Semantic proximity Read ↗

Current clinical management of Fanconi anemia.Semantic proximity Read ↗

Functional analysis of Fanconi anemia mutations in China.Semantic proximity Read ↗

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.Semantic proximity Read ↗

Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.