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Cerebrooculofacioskeletal syndrome 4

MONDO:0012554

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

Also known as: COFS syndrome caused by mutation in ERCC1, COFS4, ERCC1 COFS syndrome, cerebrooculofacioskeletal syndrome 4, cerebrooculofacioskeletal syndrome type 4

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Eye disorder (102) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) DNA repair disease (13) Microphthalmia (5) Autosomal recessive disease (4)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • New drug combo shows promise for Hard-to-Treat cancers

    Disease control Completed

    This early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…

    Phase: PHASE1 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control

    Last updated Jun 27, 2026 12:32 UTC

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