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 Korean split hand/split foot malformation (SHFM).

Molecules and cells - 30 Jun 2004

Kang Yoon Sung, Cheong Hyang-Min, Moon Youngjoon, Lee Il Bum, Kim Sun Mi, Kim Hwa Su, Jun Soo Youn, Jung Sung Kook, Kim Jin Sook, Choi Jee Hye, Cho Hang-Eui, Son Jin Sook, Min Na Young, Lee Kwang-Ho

Abstract excerpt

Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31). In this study, we attempted to identify and localize the causative allele of a Korean case of SHFM. Pedigree analysis showed that the Korean SHFM was autosomally dominant and its penetrance was high,...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 10
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 3

Share to Chromosomes, Human, Pair 7

Share to Chromosomes, Human, X

Share to Foot Deformities, Congenital

Share to Hand Deformities, Congenital

Source

Identifiers

PMID: 15232212

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

Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM).PMID 15232212Read ↗

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

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

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

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

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.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 ↗

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

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

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

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.Semantic proximity Read ↗

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

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