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

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.

Molecular medicine reports - 1 Jan 2014

Papoulidis Ioannis, Oikonomidou Eirini, Orru Sandro, Siomou Elisavet, Kontodiou Maria, Eleftheriades Makarios, Bacoulas Vasilios, Cigudosa Juan C, Suela Javier, Thomaidis Loretta, Manolakos Emmanouil

Abstract excerpt

Thrombocytopenia‑absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life‑threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Chromosomes, Human, Pair 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Bone Marrow Failure Syndromes

Share to Prenatal Diagnosis

Share to Radius

Share to Thrombocytopenia

Share to Ultrasonography, Prenatal

Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 24220582
DOI: 10.3892/mmr.2013.1788

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

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.PMID 24220582Read ↗

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.Semantic proximity Read ↗

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.Semantic proximity Read ↗

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.Semantic proximity Read ↗

A new approach for molecular diagnosis of TAR syndrome.Semantic proximity Read ↗

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.Semantic proximity Read ↗

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.Semantic proximity Read ↗

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.Semantic proximity Read ↗

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASemantic proximity Read ↗

Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias.Semantic proximity Read ↗

Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdeletion 1q21.1Semantic proximity Read ↗

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Semantic proximity Read ↗

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeSemantic proximity Read ↗

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