Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Cédric Le Caignec and colleagues show that truncating mutations in the last exon of NOTCH2 cause Hajdu-Cheney syndrome, a rare disorder marked by facial anomalies, osteoporosis and multiple organ defects. The mutations are predicted to result in an increase in NOTCH2 signaling. Hajdu-Cheney syndrome...

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