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EXOSC3

HGNC ↗

Renal thrombotic microangiopathy associated with pontocerebellar hypoplasia type 1b

1 article(s) in the watch · Constitutional genetics

Curated publications

9/10

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Renal thrombotic microangiopathy associated with pontocerebellar hypoplasia type 1b

Gén.28 July 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.