Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

doi:10.1111/cge.70208

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Article

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics - 1 Oct 2026

Langeh Nitika, Sharath Reddipalli, Ansari Mohammed Tahir, Palanichamy Jayanth Kumar, Gupta Neerja

Abstract excerpt

Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder characterized by the absence of radius in the forearms and a decrease in platelet count. The molecular basis of TAR syndrome is linked to a heterozygous minimal deletion within the 1q21.1 region spanning 200 k bases (kb), resulting in a null allele and a nucleotide variation in RBM8A resulting in a hypomorphic allele. Previous studies have...

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Topics

Humans
Thrombocytopenia
Upper Extremity Deformities, Congenital
Female
RNA-Binding Proteins
Radius

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

India

Congenital Bone Marrow Failure Syndromes

Chromosomes, Human, Pair 1

Alleles

3' Untranslated Regions

Genetic Predisposition to Disease

Chromosome Deletion

Child

Pedigree

Child, Preschool

Source

Open in PubMed Open full text

Identifiers

PMID: 42420238
DOI: 10.1111/cge.70208
PMCID: PMC13533873

Genes

RBM8A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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