Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

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% of c...

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Pubblicato in:Eur J Hum Genet
Autori principali: Vissers, Lisenka ELM, 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4326711/
https://ncbi.nlm.nih.gov/pubmed/24939586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.115
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