Article
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Human mutation - 1 Oct 2011
Majewski Jacek, Schwartzentruber Jeremy A, Caqueret Aurore, Patry Lysanne, Marcadier Janet, Fryns Jean-Pierre, Boycott Kym M, Ste-Marie Louis-Georges, McKiernan Fergus E, Marik Ivo, Van Esch Hilde, Michaud Jacques L, Samuels Mark E
Abstract excerpt
Hajdu-Cheney syndrome (HCS) is a rare genetic disorder whose hallmark is acro-osteolysis, shortening of terminal phalanges, and generalized osteoporosis. We assembled a cohort of seven families with the condition and performed whole exome resequencing on a selected set of affected patients. One protein-coding gene, NOTCH2, carried heterozygous truncating variants in all patients and their affected family members....
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