Literature DB >> 1785634

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

O Steinlein1, G Tariverdian, H U Boll, F Vogel.   

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.

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Year:  1991        PMID: 1785634     DOI: 10.1002/ajmg.1320410213

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Authors:  Hans Christian Hennies; Anita Rauch; Wenke Seifert; Christian Schumi; Elisabeth Moser; Eva Al-Taji; Gholamali Tariverdian; Krystyna H Chrzanowska; Malgorzata Krajewska-Walasek; Anna Rajab; Roberto Giugliani; Thomas E Neumann; Katja M Eckl; Mohsen Karbasiyan; André Reis; Denise Horn
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025

2.  Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.

Authors:  K E Chandler; A Kidd; L Al-Gazali; J Kolehmainen; A-E Lehesjoki; G C M Black; J Clayton-Smith
Journal:  J Med Genet       Date:  2003-04       Impact factor: 6.318

3.  A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Authors:  S J Mitchell; D P McHale; D A Campbell; N J Lench; R F Mueller; S E Bundey; A F Markham
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

4.  The ophthalmic findings in Cohen syndrome.

Authors:  K E Chandler; S Biswas; I C Lloyd; N Parry; J Clayton-Smith; G C M Black
Journal:  Br J Ophthalmol       Date:  2002-12       Impact factor: 4.638

  4 in total

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