Hajdu-Cheney syndrome is an autosomal dominant disorder caused by NOTCH2 mutations. It is characterized by skeletal abnormalities and polycystic kidneys.
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Simpson MA et al. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. |
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Isidor B et al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. |
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Majewski J et al. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. |
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Gray MJ et al. (2012) Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. |
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OMIM.ORG article Omim 102500 |
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Orphanet article Orphanet ID 955 |
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Wikipedia article Wikipedia EN (Hajdu–Cheney_syndrome) |