Article
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.
Annals of clinical and laboratory science - 1 Jan 2015
Han Mi Seon, Ko Jung Min, Cho Tae-Joon, Park Woong-Yang, Cheong Hae Il
Abstract excerpt
Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) share many similarities, including craniofacial abnormalities, bony deformities, and renal involvement. Because mutations in exon 34 of NOTCH2 have been identified recently in both HCS and SFPKS patients, it has been suggested that these two syndromes be classed as the same disorder. A 3-year-old boy presented with polycystic...
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