ArticleJournal of medical genetics2002
Thrombocytopenia-absent radius syndrome: a clinical genetic study.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
What it found
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Who cites it
48 citing papers in PubMed, 185 citations in OpenAlex.
- Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.Clinical genetics · 2026Article
- The Role of Ultrasonography in the Detection of Von Voss-Cherstvoy Syndrome: A Case Report and Review of Literature.Journal of clinical ultrasound : JCU · 2026Review
- TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling.Research square · 2026Article
- TAR syndrome causal genebioRxiv : the preprint server for biology · 2026Article
- Trisomy 18 presenting with complete bilateral radial aplasia: a rare case report.BMC pediatrics · 2026Article
- Successful Haplo-Hematopoietic Stem Cell Transplantation for Juvenile Myelomonocytic Leukemia in a Child With Underlying Thrombocytopenia-Absent Radius Syndrome: A Unique Case.Cancer reports (Hoboken, N.J.) · 2026Article
- Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling.Developmental biology · 2025Article
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Gait Analysis with an Upper Limb Prosthesis in a Child with Thrombocytopenia-Absent Radius Syndrome.Journal of clinical medicine · 2025Article
- Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.European journal of human genetics : EJHG · 2023Article
- Lateral thinking in syndromic congenital cardiovascular disease.Disease models & mechanisms · 2023Article
- Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report.Annals of medicine and surgery (2012) · 2023Article
- Transcriptomic Analyses of Brains of RBM8A Conditional Knockout Mice at Different Developmental Stages Reveal Conserved Signaling Pathways Contributing to Neurodevelopmental Diseases.International journal of molecular sciences · 2023Article
- Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications.Frontiers in medicine · 2023Article
- Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome.Acta orthopaedica et traumatologica turcica · 2022Article
- Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant inInternational journal of molecular sciences · 2022Article
- Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report.Cureus · 2022Article
- Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.Molecular genetics and genomics : MGG · 2021Article
- Genome-Wide Association and Mendelian Randomization Analysis Reveal the Causal Relationship Between White Blood Cell Subtypes and Asthma in Africans.Frontiers in genetics · 2021Article
- Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia.Cureus · 2020Article
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.