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Revesz syndrome; retinopathy exudative with bone marrow failure

Pathology: - bilateral exudative retinopathy - bone marrow hypoplasia - cerebellar hypoplasia Genetics: - associated with defects in TINF2 Clinical manifestations: - nail dystrophy - fine hair - growth retardation

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 268130

References

  1. OMIM :accession 268130