Literature DB >> 8826449

X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome.

E Morava1, J Storcz, G Kosztolányi.   

Abstract

We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. [Am J Med Genet 51:586-590, 1994] supports their suggestion that these patients are representative of a distinct entity.

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Year:  1996        PMID: 8826449     DOI: 10.1002/(SICI)1096-8628(19960712)64:1<59::AID-AJMG8>3.0.CO;2-M

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


  1 in total

1.  A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.

Authors:  Leda Paganini; Loubna A Hadi; Massimiliano Chetta; Davide Rovina; Laura Fontana; Patrizia Colapietro; Eleonora Bonaparte; Lidia Pezzani; Paola Marchisio; Silvia M Tabano; Jole Costanza; Silvia M Sirchia; Laura Riboni; Donatella Milani; Monica Miozzo
Journal:  Clin Genet       Date:  2018-12-26       Impact factor: 4.438

  1 in total

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