Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

Open Access

Peer-reviewed

Research Article

Hyun-Seok Jin,

Affiliation Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Chungnam, Republic of Korea
⨯
Jeonhyun Kim,

Affiliation Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea
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Woori Kwak,

Affiliation C&K Genomics, Seoul, Republic of Korea
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Hyeonsoo Jeong,

Affiliation Department of Animal Sciences, University of Illinois, Urbana, Illinois, United States of America
⨯
Gyu-Bin Lim,

Affiliation Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea
⨯
Cha Gon Lee

* E-mail: leechagon@eulji.ac.kr

Affiliation Department of Pediatrics, Nowon Eulji Medical Center, Eulji University, Seoul, Republic of Korea
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Cataracts
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Eyes
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Congenital anomalies
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Eye lens
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Mutation databases
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Congenital disorders
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Intraocular lens implantation
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Heterozygosity
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