Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.1320470802/fullpdf
Reference29 articles.
1. Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.
2. Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype
3. Partial trisomy 6p
4. Interstitial deletion of the short arm of chromosome 7 without craniosynostosis
5. Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.
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1. The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1;Pediatric Nephrology;2013-11-30
2. Clinical, Radiologic, and Genetic Features in Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome in the Indian Population;Investigative Opthalmology & Visual Science;2013-04-26
3. Microdeletion 3q Syndrome;Journal of Craniofacial Surgery;2011-11
4. Deletion 3q22.1–q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype;Clinical Dysmorphology;2008-07
5. Familial Blepharophimosis-Like Syndrome with Esotropia, Uveal Coloboma, and Short Stature;Ophthalmic Genetics;2006-01
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