Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection
Smigiel, Robert, Cabala, Magdalena, Jakubiak, Aleksandra, Kodera, Hirofumi, Sasiadek, Marek J., Matsumoto, Naomichi, Sasiadek, Maria M., Saitsu, HirotomoТом:
106
Мова:
english
Журнал:
Birth Defects Research Part A: Clinical and Molecular Teratology
DOI:
10.1002/bdra.23488
Date:
April, 2016
Файл:
PDF, 154 KB
english, 2016
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