Literature DB >> 18018428

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.

R Mathys1, H Deconinck, K Keymolen, A Jansen, H Van Esch.   

Abstract

We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.

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Year:  2007        PMID： 18018428

Source DB:  PubMed          Journal:  Bull Soc Belge Ophtalmol        ISSN： 0081-0746


  2 in total

1.  Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Authors:  Xiaoyan Ding; Mrinali Patel; Alexandra A Herzlich; Pamela C Sieving; Chi-Chao Chan
Journal:  Ophthalmic Genet       Date:  2009-09       Impact factor: 1.803

2.  Identification of a novel microdeletion causative of Nance-Horan syndrome.

Authors:  Mariana Lopez Martinolich; Hope Northrup; Pedro Mancias; Paul Hillman; Kavya Rao; Kate Mowrey
Journal:  Mol Genet Genomic Med       Date:  2022-02-05       Impact factor: 2.183
  2 in total

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