Literature DB >> 2801768

Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.

R B Lowry1, B J Wood, T A Cox, M R Hayden.   

Abstract

In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.

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Year:  1989        PMID: 2801768     DOI: 10.1002/ajmg.1320330311

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


  2 in total

1.  The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Authors:  Laura S Farach; Mary E Little; Angela L Duker; Clare V Logan; Andrew Jackson; Jaqueline T Hecht; Michael Bober
Journal:  Am J Med Genet A       Date:  2017-12-19       Impact factor: 2.802

2.  Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Authors:  Ivan Shelihan; Sophie Ehresmann; Cinzia Magnani; Francesca Forzano; Chiara Baldo; Nicola Brunetti-Pierri; Philippe M Campeau
Journal:  Hum Genet       Date:  2018-10-27       Impact factor: 4.132

  2 in total

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