Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
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...
Read More