8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3
نویسندگان
چکیده
منابع مشابه
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear ano...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2013
ISSN: 1755-8166
DOI: 10.1186/1755-8166-6-49