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

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

Clinical genetics - 1 Mar 2018

Umair M, Ullah A, Abbas S, Ahmad F, Basit S, Ahmad W

Abstract excerpt

Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Homozygote

Share to Karyotype

Share to Limb Deformities, Congenital

Share to Loss of Function Mutation

Share to Syndrome

Source

Identifiers

PMID: 29023680
DOI: 10.1111/cge.13152

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.PMID 29023680Read ↗

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split 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 ↗

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 ↗

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

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

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.Semantic proximity Read ↗

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

[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].Semantic proximity Read ↗

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)Semantic proximity Read ↗

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

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

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