Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome
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DOI: 10.1136/bcr-2023-259103
Abstract: Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified… read more here.
Keywords: due col4a1; gould syndrome; hemiparesis; mutation ... See more keywords