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Revesz syndrome

MIM.268130

Tuesday 26 February 2008

Etiology

- TINF2 germline mutations in Revesz syndrome

References

- Kajtar, P.; Mehes, K. : Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am. J. Med. Genet. 49: 374-377, 1994. PubMed ID : 8160728

- Revesz, T.; Fletcher, S.; Al-Gazali, L. I.; DeBuse, P. : Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?. J. Med. Genet. 29: 673-675, 1992. PubMed ID : 1404302