Literature DB >> 7493159

A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata.

R Friling1, Y Yassur, D Abeliovich, B Biedner, A Galil, J Dagan, R Carmi.   

Abstract

A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome II is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.

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Year:  1995        PMID: 7493159     DOI: 10.3109/13816819509056915

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  1 in total

1.  PAX6 gene analysis in irido-fundal coloboma.

Authors:  Kishlay Kumar; Mukesh Tanwar; Prashant Naithani; Rajpal Insaan; Satpal Garg; Pradeep Venkatesh; Rima Dada
Journal:  Mol Vis       Date:  2011-05-27       Impact factor: 2.367

  1 in total

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