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

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

American journal of medical genetics. Part A - 1 Feb 2021

Panigrahi Inusha, Shankar Prasad Bangalore Anantharamu, Kaur Harleen, Kalra Jasvinder

Abstract excerpt

Fetal akinesia and contractures can be caused by mutations in various genes that lead to overlapping phenotypes with contractures, rocker bottom feet, cerebellar hypoplasia, ventriculomegaly, growth retardation, pulmonary hypoplasia, cystic hygroma and cleft palate in various combinations. Cerebro-oculo-facio-skeletal (COFS) syndrome is a condition resulting from defects in DNA repair pathway, and genes involved...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Cockayne Syndrome
Share to DNA Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endonucleases

Share to Microcephaly

Share to Nuclear Proteins

Share to Prenatal Diagnosis

Share to Xeroderma Pigmentosum

Source

Identifiers

PMID: 33219753
DOI: 10.1002/ajmg.a.61979

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

COFS type 3 in an Indian family with antenatally detected arthrogryposis.PMID 33219753Read ↗

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.Semantic proximity Read ↗

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.Semantic proximity Read ↗

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Semantic proximity Read ↗

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.Semantic proximity Read ↗

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.Semantic proximity Read ↗

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Semantic proximity Read ↗

ARC syndrome.Semantic proximity Read ↗

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and managementSemantic proximity Read ↗

First Report of SYNE1 Arthrogryposis Multiplex Congenita From Saudi Arabia With a Novel Mutation: A Case ReportSemantic proximity Read ↗

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.Semantic proximity Read ↗

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.Semantic proximity Read ↗

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA SplicingSemantic proximity Read ↗

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