Work

Complex cytogenetic rearrangements at the DURS 1 locus in syndromic Duane retraction syndrome

Year: 2013

Type: article

Study design: Case Report

Abstract: Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.11

Authors: Hagit N. Baris, Wai‐Man Chan, Caroline Andrews, Doron M. Behar, Diana J. Donovan, Cynthia C. Morton, Judith Ranells, Tuya Pal, Azra H. Ligon, Elizabeth C. Engle

Institutions: Boston Children's Hospital, Tel Aviv University, Rabin Medical Center, Howard Hughes Medical Institute, Harvard University, Manton Center for Orphan Disease Research, Brigham and Women's Hospital, University of South Florida, Moffitt Cancer Center

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820

Funders: National Institutes of Health, National Eye Institute

Awards: Positional Cloning of the Duane Syndrome DURS2 Gene, Genetic Etiologies of Horizontal Strabismus, Molecular Basis of Congenital Strabismus

OpenAlex ID: W2118181611

FWCI: 0.441

Cites: 17

Cited by: 4

Related to: 10