Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

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

doi:10.1002/ccr3.11

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

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

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Clinical case reports
Volume	1
Issue number	1
DOIs	https://doi.org/10.1002/ccr3.11
Publication status	Published - 1 Oct 2013

Keywords

8q12 microduplication syndrome
DURS1
Duane retraction syndrome
copy number variation
cytogenetics

Access to Document

10.1002/ccr3.11

Cite this

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title = "Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.",

keywords = "8q12 microduplication syndrome, DURS1, Duane retraction syndrome, copy number variation, cytogenetics",

author = "Baris, {Hagit N} and Wai-Man Chan and Caroline Andrews and Behar, {Doron M} and Donovan, {Diana J} and Morton, {Cynthia C} and Judith Ranells and Tuya Pal and Ligon, {Azra H} and Engle, {Elizabeth C}",

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language = "English",

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T1 - Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

AU - Baris, Hagit N

AU - Chan, Wai-Man

AU - Andrews, Caroline

AU - Behar, Doron M

AU - Donovan, Diana J

AU - Morton, Cynthia C

AU - Ranells, Judith

AU - Pal, Tuya

AU - Ligon, Azra H

AU - Engle, Elizabeth C

N1 - F32 EY016306, NEI NIH HHS, United StatesR01 EY012498, NEI NIH HHS, United StatesR01 EY015298, NEI NIH HHS, United States

PY - 2013/10/1

Y1 - 2013/10/1

KW - 8q12 microduplication syndrome

KW - DURS1

KW - Duane retraction syndrome

KW - copy number variation

KW - cytogenetics

U2 - 10.1002/ccr3.11

DO - 10.1002/ccr3.11

M3 - Article

C2 - 24416505

SN - 2050-0904

VL - 1

JO - Clinical case reports

JF - Clinical case reports

IS - 1

ER -