Comment on

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

  Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Simpson MA, et al. Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779. Nat Genet. 2011. PMID: 21378985
• Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

  Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Isidor B, et al. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778. Nat Genet. 2011. PMID: 21378989