A Rasopathy Phenotype With Severe Congenital Hypertrophic Obstructive Cardiomyopathy Associated With a PTPN11 Mutation and a Novel Variant in SOS1

The RAS-MAPK pathway is critical for human growth and development. Abnormalities at different steps of this signaling cascade result in neuro-cardio-facial-cutaneous syndromes, or the RASopathies, a group of disorders with overlapping yet distinct phenotypes. RASopathy patients have variable degrees...

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Pubblicato in:Am J Med Genet A
Autori principali: Fahrner, Jill A., Frazier, Aisha, Bachir, Suha, Walsh, Michael F., Applegate, Carolyn D., Thompson, Reid, Halushka, Marc K., Murphy, Anne M., Gunay-Aygun, Meral
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5101836/
https://ncbi.nlm.nih.gov/pubmed/22585553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35363
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