Total: 1 |
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PMID (PMCID) | ||
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25873210 |
MIXED_SAMPLE | Adult |
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. | ||
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A. J Neurol Sci. 2015;352(1-2):99-104. |
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Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome. |