E-mail

E-mail a Wiley Online Library Link

Hagit N. Baris, Wai-Man Chan, Caroline Andrews, Doron M. Behar, Diana J. Donovan, Cynthia C. Morton, Judith Ranells, Tuya Pal, Azra H. Ligon and Elizabeth C. Engle Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome Clinical Case Reports 1

Version of Record online: 30 SEP 2013 | DOI: 10.1002/ccr3.11

Thumbnail image of graphical abstract

A patient with syndromic Duane retraction syndrome harbors a chromosome 8p11.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease.

Complete the form below and we will send an e-mail message containing a link to the selected article on your behalf

Required = Required Field

SEARCH