Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. European journal of human genetics : EJHG 23: 317-24, 2015.  [Article] 

 doi: 10.1038/ejhg.2014.115 PMID: 24939586.