Die angeborene zystische Dilatation der intrahepatischen Gallenwege wird als Caroli-Syndrom bezeichnet. Ätiologisch kommen neben PKHD1-Mutationen (autosomal dominant) sicher auch andere bisher noch nicht ausreichend charakterisierte Gene in Betracht.
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OMIM.ORG article Omim 600643 |
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Orphanet article Orphanet ID 53035 |
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Wikipedia Artikel Wikipedia DE (Caroli-Syndrom) |