Review
doi: 10.1002/ajmg.1320470802.
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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- PMID: 8291545
- DOI: 10.1002/ajmg.1320470802
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Review
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
Am J Med Genet.
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Abstract
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.
Comment in
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Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly.Am J Med Genet. 1994 Aug 15;52(2):245. doi: 10.1002/ajmg.1320520228. Am J Med Genet. 1994. PMID: 7802022 Review. No abstract available.
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