Literature DB >> 4050854

The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.

H M Mendez, G A Paskulin, C Vallandro.   

Abstract

We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK-26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.

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Year:  1985        PMID: 4050854     DOI: 10.1002/ajmg.1320220202

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


  5 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.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

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

Review 4.  Feedback regulation of RTK signaling in development.

Authors:  Cynthia L Neben; Megan Lo; Natalia Jura; Ophir D Klein
Journal:  Dev Biol       Date:  2017-10-26       Impact factor: 3.582

Review 5.  Cohen Syndrome: Review of the Literature.

Authors:  Jonathan M Rodrigues; Hermina D Fernandes; Carrie Caruthers; Stephen R Braddock; Alan P Knutsen
Journal:  Cureus       Date:  2018-09-18
  5 in total

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