Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
European journal of human genetics : EJHG - 1 Mar 2015
Vissers Lisenka E L M, Bonetti Monica, Paardekooper Overman Jeroen, Nillesen Willy M, Frints Suzanna G M, de Ligt Joep, Zampino Giuseppe, Justino Ana, Machado José C, Schepens Marga, Brunner Han G, Veltman Joris A, Scheffer Hans, Gros Piet, Costa José L, Tartaglia Marco, van der Burgt Ineke, Yntema Helger G, den Hertog Jeroen
Abstract excerpt
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known to cause NS are dominant, activating mutations in signal transducers of the RAS/mitogen-activated protein kinase (MAPK) pathway. In 25% o...
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