Condition: Hajdu-Cheney Syndrome


rs1553193507 in NOTCH2 gene and Hajdu-Cheney Syndrome PMID 21378989 2011 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

PMID 27312922 2016 End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.

PMID 8755249 1996 PEST sequences and regulation by proteolysis.

PMID 21378985 2011 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.