Disease Directory Thrombocytopenia-absent radius syndrome
Blood

Thrombocytopenia-absent radius syndrome

Type

Malformation syndrome

Gene

RBM8A

About Thrombocytopenia-absent radius syndrome

Thrombocytopenia-absent radius syndrome is a rare disease catalogued by Orphanet (ORPHA:3320). It is associated with the RBM8A gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Thrombocytopenia-absent radius syndrome trials.

Search ClinicalTrials.gov for "Thrombocytopenia-absent radius syndrome" or filter by Orphanet code ORPHA:3320 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:3320)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Thrombocytopenia-absent radius syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Thrombocytopenia-absent radius syndrome. Updated daily.