Familial Blepharophimosis-Like Syndrome with Esotropia, Uveal Coloboma, and Short Stature
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/13816810600862501
Reference11 articles.
1. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD, MIM Number: #110100: 8/30/2005. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
2. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
3. Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype
4. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): A putative gene responsible for microcephaly close to the BPES gene?
5. 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
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2. Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23);Ophthalmic Genetics;2008-01
3. Current World Literature;Current Opinion in Ophthalmology;2007-09
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