Further refinement of COL4A1 and COL4A2 related cortical malformations.
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DOI: 10.1016/j.ejmg.2018.10.004
Abstract: Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed… read more here.
Keywords: col4a1 col4a2; col4a1 mutations; cortical malformations; refinement col4a1 ... See more keywords