Article
Childhood presentation of COL4A1 mutations.
Developmental medicine and child neurology - 1 Jun 2012
Shah Siddharth, Ellard Sian, Kneen Rachel, Lim Ming, Osborne Nigel, Rankin Julia, Stoodley Neil, van der Knaap Marjo, Whitney Andrea, Jardine Philip
Abstract excerpt
AIM: To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation. METHOD: We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutation analysis of the four cases. Affected family members were identified. COL4A1 mutation analysis was performed in all index cases and, where possible, in affected...
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