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

A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.

Orphanet journal of rare diseases - 31 Oct 2024

Wang Yaqian, Li Yang, Zeng Lidong, Li Wenbo, Dong Xin, Guo Jia, Meng Xiangrui, Lu Jiacheng, Xu Jiawei

Abstract excerpt

BACKGROUND: Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is challenging in clinical practice, and traditional detection methods may lead to misdiagnoses in embryos and pregnant women. RESULTS: In this research, we utilized a low cell...

Topics

Join the communities discussing this publication.

DNA Copy Number Variations
Genetic Testing
High-Throughput Nucleotide Sequencing
Limb Deformities, Congenital
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Single-Cell Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 39482735
DOI: 10.1186/s13023-024-03386-5
PMCID: PMC11526726

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.PMID 39482735Read ↗

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Semantic proximity Read ↗

Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3.Semantic proximity Read ↗

Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.Semantic proximity Read ↗

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).Semantic proximity Read ↗

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.Semantic proximity Read ↗

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.Semantic proximity Read ↗

Novel variants of TP63 identified in Chinese families with split-hand/foot malformationSemantic proximity Read ↗

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.Semantic proximity Read ↗

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.Semantic proximity Read ↗

Split-hand/foot malformation - molecular cause and implications in genetic counseling.Semantic proximity Read ↗

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.Semantic proximity Read ↗

Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.Semantic proximity Read ↗

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