Article
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
European journal of human genetics : EJHG - 1 Jan 2012
Gray Mary J, Kim Chong Ae, Bertola Debora Romeo, Arantes Paula Ricci, Stewart Helen, Simpson Michael A, Irving Melita D, Robertson Stephen P
Abstract excerpt
Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles syndrome (MNS; MIM309350) and Hajdu-Cheney Syndrome (HCS; MIM102500)....
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