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

A novel sequence variant in SFRP4 causing Pyle disease.

Journal of human genetics - 1 Apr 2017

Galada Chelna, Shah Hitesh, Shukla Anju, Girisha Katta M

Abstract excerpt

Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel homozygous nonsense variant, c.183C>G (p.Y61*) was observed. Segregation analysis in the patient...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteochondrodysplasias

Share to Pedigree

Share to Proto-Oncogene Proteins

Source

Identifiers

PMID: 28100910
DOI: 10.1038/jhg.2016.166

Genes

SFRP4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

A novel sequence variant in SFRP4 causing Pyle disease.PMID 28100910Read ↗

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.Semantic proximity Read ↗

Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III.Semantic proximity Read ↗

Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.Semantic proximity Read ↗

Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.Semantic proximity Read ↗

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral PhenotypeSemantic proximity Read ↗

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.Semantic proximity Read ↗

Identification of a novel missense mutation in non-syndromic familial multiple supernumerary teeth.Semantic proximity Read ↗

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.Semantic proximity Read ↗

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.Semantic proximity Read ↗

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.Semantic proximity Read ↗

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.Semantic proximity Read ↗

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