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

Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance.

American journal of medical genetics. Part A - 1 Aug 2010

Blattner Ariane, Huber Andreas R, Röthlisberger Benno

Abstract excerpt

Split-hand/foot malformation (SHFM) is a limb malformation affecting the central rays of the hands and/or feet. Isolated SHFM occurs within families but more often sporadically. Since most families with more than one patient show dominant inheritance with reduced penetrance, sporadic SHFM is generally considered to be due to dominantly inherited new mutations. Recently, recessive inheritance of SHFM was proposed...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Hand Deformities, Congenital

Share to Homozygote

Share to Pregnancy

Share to Proto-Oncogene Proteins

Share to Wnt Proteins

Source

Identifiers

PMID: 20635353
DOI: 10.1002/ajmg.a.33504

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

Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance.PMID 20635353Read ↗

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

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.Semantic proximity Read ↗

Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation.Semantic proximity Read ↗

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

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

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

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

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

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

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