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Die häufig nur mit RHPD abgekürzte autosomal rezessive Erkrankung beruht auf Mutationen des NPHP3-Gens. Sie ist durch Fehlbildungen in Niere, Leber und Pancreas gekennzeichnet.
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Bernstein J et al. (1987) Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. [^] |
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