Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

McMillin MJ., Beck AE., Chong JX., Shively KM., Buckingham KJ., Gildersleeve HIS., Aracena MI., Aylsworth AS., Bitoun P., Carey JC., Clericuzio CL., Crow YJ., Curry CJ., Devriendt K., Everman DB., Fryer A., Gibson K., Giovannucci Uzielli ML., Graham JM., Hall JG., Hecht JT., Heidenreich RA., Hurst JA., Irani S., Krapels IPC., Leroy JG., Mowat D., Plant GT., Robertson SP., Schorry EK., Scott RH., Seaver LH., Sherr E., Splitt M., Stewart H., Stumpel C., Temel SG., Weaver DD., Whiteford M., Williams MS., Tabor HK., Smith JD., Shendure J., Nickerson DA., Bamshad MJ.

DOI

10.1016/j.ajhg.2014.03.015

Type

Journal article

Publisher

Elsevier BV

Publication Date

2014-05-01T00:00:00+00:00

Volume

94

Pages

734 - 744

Total pages

10

Permalink More information Close