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

Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.

Genetic testing and molecular biomarkers - 1 Jun 2017

Cao Lihua, Yang Wei, Wang Shusen, Chen Chen, Zhang Xue, Luo Yang

Abstract excerpt

AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Chromosomes, Human, Pair 10
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Foot Deformities, Congenital

Share to Gene Duplication

Share to Hand Deformities, Congenital

Share to Haplotypes

Share to Limb Deformities, Congenital

Source

Identifiers

PMID: 28422522
DOI: 10.1089/gtmb.2016.0415

Genes

DPCD
LBX1
POLL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.PMID 28422522Read ↗

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

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

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

Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).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 ↗

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

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.Semantic proximity Read ↗

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

Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6).Semantic proximity Read ↗

[Genetic analysis of three families affected with split-hand/split-foot malformation].Semantic proximity Read ↗

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

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.Semantic proximity Read ↗

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