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Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.

作者信息

Steinlein O, Tariverdian G, Boll H U, Vogel F

机构信息

Institute of Human Genetics, University of Heidelberg, Germany.

出版信息

Am J Med Genet. 1991 Nov 1;41(2):196-200. doi: 10.1002/ajmg.1320410213.

Abstract

We report on 2 brothers with marked eye anomalies, documented with histopathological studies, and several other findings fitting the diagnosis of both the Cohen and the Mirhosseini-Holmes-Walton syndromes. In accordance with Norio and Raitta (Norio R, Raitta C (1986): Am J Med Genet 25:397-398) we come to the conclusion that these 2 syndromes constitute one clinical but possibly heterogeneous entity.

摘要

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