Literature DB >> 11078574

GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation.

A Verloes, S Lesenfants, M Jamar, V Dideberg, C Herens.   

Abstract

Mesh：

Year:  2000        PMID： 11078574

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


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  3 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

Authors:  C D M van Karnebeek; C Koevoets; S Sluijter; E K Bijlsma; D F M C Smeets; E J Redeker; R C M Hennekam; J M N Hoovers
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 3.  Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs.

Authors:  Alasdair G W Hunter
Journal:  CMAJ       Date:  2002-08-20       Impact factor: 8.262
  3 in total

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