Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly.
作者信息
Ishikiriyama S, Goto M
出版信息
Am J Med Genet. 1994 Aug 15;52(2):245. doi: 10.1002/ajmg.1320520228.
PMID:7802022
Abstract
摘要
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mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.
Open Life Sci. 2021 Dec 10;16(1):1268-1277. doi: 10.1515/biol-2021-0129. eCollection 2021.
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