A common tool for rare diseases

K Huang¹

Affiliations

Comment

K Huang. Clin Genet. 2012 May.

. 2012 May;81(5):432.

doi: 10.1111/j.1399-0004.2012.01867.x. Epub 2012 Mar 21.

K Huang¹

¹ The Centre for Molecular Medicine and Therapeutics, University of British Columbia, 980 28th Ave W, Vancouver, BC V5Z 4H4, Canada. khuang@cmmt.ubc.ca

No abstract available

Comment on

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, di Rocco M, Héron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V. Le Goff C, et al. Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016. Nat Genet. 2011. PMID: 22158539