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Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly,periventricular calcifications,and cataract resembling congenital infection |
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| Authors: | Robert Smigiel Magdalena Cabala Aleksandra Jakubiak Hirofumi Kodera Marek J Sasiadek Naomichi Matsumoto Maria M Sasiadek Hirotomo Saitsu |
| Institution: | 1. Department of Social Pediatrics, Wroclaw Medical University, Poland;2. Department of Genetics, Wroclaw Medical University, Wroclaw, Poland;3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan;4. Department of General and Interventional Radiology and Neuroradiology, Wroclaw Medical University, Wroclaw, Poland |
| Abstract: | |
| Keywords: | COL4A1 Schizencephaly periventricular calcifications cataract developmental delay congenital infection |